Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.8580855_8580878dup | CA2588116087 | ADAMTS10 | c.*18_*41dup (n.*18_*41dup) c.*2207_*2230dup (n.*2207_*2230dup) | gnomAD v4 |
19 | g.8580869G>A | CA2582326080 | ADAMTS10 | c.*24C>T (n.*24C>T) c.*2213C>T (n.*2213C>T) | gnomAD v3 gnomAD v4 |
19 | g.8580869G>T | CA2588116097 | ADAMTS10 | c.*24C>A (n.*24C>A) c.*2213C>A (n.*2213C>A) | gnomAD v4 |
19 | g.8580870T>C | CA304996312 | ADAMTS10 | c.*23A>G (n.*23A>G) c.*2212A>G (n.*2212A>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8580870T= | CA2321494683 | ADAMTS10 | c.*23A= (n.*23A=) c.*2212A= (n.*2212A=) | |
19 | g.8580871G>T | CA2588116098 | ADAMTS10 | c.*22C>A (n.*22C>A) c.*2211C>A (n.*2211C>A) | gnomAD v4 |
19 | g.8580872G>A | CA2588116099 | ADAMTS10 | c.*21C>T (n.*21C>T) c.*2210C>T (n.*2210C>T) | gnomAD v4 |
19 | g.8580872G>T | CA2588116100 | ADAMTS10 | c.*21C>A (n.*21C>A) c.*2210C>A (n.*2210C>A) | gnomAD v4 |
19 | g.8580873C>A | CA2588116101 | ADAMTS10 | c.*20G>T (n.*20G>T) c.*2209G>T (n.*2209G>T) | gnomAD v4 |
19 | g.8580873C= | CA2321494684 | ADAMTS10 | c.*20G= (n.*20G=) c.*2209G= (n.*2209G=) | |
19 | g.8580873C>T | CA9159932 | ADAMTS10 | c.*20G>A (n.*20G>A) c.*2209G>A (n.*2209G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580874T>C | CA2576607674 | ADAMTS10 | c.*19A>G (n.*19A>G) c.*2208A>G (n.*2208A>G) | |
19 | g.8580875C>A | CA2588116103 | ADAMTS10 | c.*18G>T (n.*18G>T) c.*2207G>T (n.*2207G>T) | gnomAD v4 |
19 | g.8580875C= | CA2321494685 | ADAMTS10 | c.*18G= (n.*18G=) c.*2207G= (n.*2207G=) | |
19 | g.8580875C>T | CA2321494686 | ADAMTS10 | c.*18G>A (n.*18G>A) c.*2207G>A (n.*2207G>A) | dbSNP gnomAD v4 |
19 | g.8580877_8580893dup | CA2588116102 | ADAMTS10 | c.*2_*18dup (n.*2_*18dup) c.*2191_*2207dup (n.*2191_*2207dup) | gnomAD v4 |
19 | g.8580876C>A | CA2588116104 | ADAMTS10 | c.*17G>T (n.*17G>T) c.*2206G>T (n.*2206G>T) | gnomAD v4 |
19 | g.8580876C= | CA2321494687 | ADAMTS10 | c.*17G= (n.*17G=) c.*2206G= (n.*2206G=) | |
19 | g.8580876C>G | CA2321494688 | ADAMTS10 | c.*17G>C (n.*17G>C) c.*2206G>C (n.*2206G>C) | dbSNP gnomAD v4 |
19 | g.8580876C>T | CA9159933 | ADAMTS10 | c.*17G>A (n.*17G>A) c.*2206G>A (n.*2206G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.8580877G>A | CA631364717 | ADAMTS10 | c.*16C>T (n.*16C>T) c.*2205C>T (n.*2205C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8580877G= | CA2321494689 | ADAMTS10 | c.*16C= (n.*16C=) c.*2205C= (n.*2205C=) | |
19 | g.8580877G>T | CA2588116106 | ADAMTS10 | c.*16C>A (n.*16C>A) c.*2205C>A (n.*2205C>A) | dbSNP gnomAD v4 |
19 | g.8580879del | CA2588116105 | ADAMTS10 | c.*16del (n.*16del) c.*2205del (n.*2205del) | gnomAD v4 |
19 | g.8580878G>A | CA2588116107 | ADAMTS10 | c.*15C>T (n.*15C>T) c.*2204C>T (n.*2204C>T) | gnomAD v4 |
19 | g.8580878G>C | CA631364718 | ADAMTS10 | c.*15C>G (n.*15C>G) c.*2204C>G (n.*2204C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580878G= | CA2321494690 | ADAMTS10 | c.*15C= (n.*15C=) c.*2204C= (n.*2204C=) | |
19 | g.8580878G>T | CA2588116108 | ADAMTS10 | c.*15C>A (n.*15C>A) c.*2204C>A (n.*2204C>A) | gnomAD v4 |
19 | g.8580879G>A | CA2576607675 | ADAMTS10 | c.*14C>T (n.*14C>T) c.*2203C>T (n.*2203C>T) | gnomAD v4 |
19 | g.8580879G>T | CA2576607676 | ADAMTS10 | c.*14C>A (n.*14C>A) c.*2203C>A (n.*2203C>A) | gnomAD v4 |
19 | g.8580880T>G | CA2588116109 | ADAMTS10 | c.*13A>C (n.*13A>C) c.*2202A>C (n.*2202A>C) | gnomAD v4 |
19 | g.8580881G>A | CA2588116111 | ADAMTS10 | c.*12C>T (n.*12C>T) c.*2201C>T (n.*2201C>T) | gnomAD v4 |
19 | g.8580881G>T | CA2588116112 | ADAMTS10 | c.*12C>A (n.*12C>A) c.*2201C>A (n.*2201C>A) | gnomAD v4 |
19 | g.8580884_8580890del | CA2588116110 | ADAMTS10 | c.*6_*12del (n.*6_*12del) c.*2195_*2201del (n.*2195_*2201del) | gnomAD v4 |
19 | g.8580882C= | CA2321494691 | ADAMTS10 | c.*11G= (n.*11G=) c.*2200G= (n.*2200G=) | |
19 | g.8580882C>T | CA304996314 | ADAMTS10 | c.*11G>A (n.*11G>A) c.*2200G>A (n.*2200G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.8580882_8580884delinsCCG | CA2321494692 | ADAMTS10 | c.*9_*11delinsCGG (n.*9_*11delinsCGG) c.*2198_*2200delinsCGG (n.*2198_*2200delinsCGG) | |
19 | g.8580883C>A | CA2588116114 | ADAMTS10 | c.*10G>T (n.*10G>T) c.*2199G>T (n.*2199G>T) | gnomAD v4 |
19 | g.8580883C= | CA2321494693 | ADAMTS10 | c.*10G= (n.*10G=) c.*2199G= (n.*2199G=) | |
19 | g.8580883C>T | CA9159934 | ADAMTS10 | c.*10G>A (n.*10G>A) c.*2199G>A (n.*2199G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.8580888_8580889dup | CA2588116113 | ADAMTS10 | c.*9_*10dup (n.*9_*10dup) c.*2198_*2199dup (n.*2198_*2199dup) | gnomAD v4 |
19 | g.8580888_8580889del | CA884337412 | ADAMTS10 | c.*9_*10del (n.*9_*10del) c.*2198_*2199del (n.*2198_*2199del) | dbSNP gnomAD v4 |
19 | g.8580884G>A | CA631364721 | ADAMTS10 | c.*9C>T (n.*9C>T) c.*2198C>T (n.*2198C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8580884G= | CA2321494694 | ADAMTS10 | c.*9C= (n.*9C=) c.*2198C= (n.*2198C=) | |
19 | g.8580884G>T | CA2588116115 | ADAMTS10 | c.*9C>A (n.*9C>A) c.*2198C>A (n.*2198C>A) | gnomAD v4 |
19 | g.8580885C>A | CA2588116116 | ADAMTS10 | c.*8G>T (n.*8G>T) c.*2197G>T (n.*2197G>T) | gnomAD v4 |
19 | g.8580885C= | CA2321494695 | ADAMTS10 | c.*8G= (n.*8G=) c.*2197G= (n.*2197G=) | |
19 | g.8580885C>T | CA2321494696 | ADAMTS10 | c.*8G>A (n.*8G>A) c.*2197G>A (n.*2197G>A) | dbSNP gnomAD v4 |
19 | g.8580886G>A | CA2576607677 | ADAMTS10 | c.*7C>T (n.*7C>T) c.*2196C>T (n.*2196C>T) | gnomAD v4 |
19 | g.8580886G>C | CA2588116117 | ADAMTS10 | c.*7C>G (n.*7C>G) c.*2196C>G (n.*2196C>G) | gnomAD v4 |
19 | g.8580886G= | CA2321494697 | ADAMTS10 | c.*7C= (n.*7C=) c.*2196C= (n.*2196C=) | |
19 | g.8580886G>T | CA884337417 | ADAMTS10 | c.*7C>A (n.*7C>A) c.*2196C>A (n.*2196C>A) | dbSNP gnomAD v4 |
19 | g.8580887C>A | CA2588116118 | ADAMTS10 | c.*6G>T (n.*6G>T) c.*2195G>T (n.*2195G>T) | gnomAD v4 |
19 | g.8580887C= | CA2321494698 | ADAMTS10 | c.*6G= (n.*6G=) c.*2195G= (n.*2195G=) | |
19 | g.8580887C>T | CA993277351 | ADAMTS10 | c.*6G>A (n.*6G>A) c.*2195G>A (n.*2195G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.8580888_8580890dup | CA9159935 | ADAMTS10 | c.*4_*6dup (n.*4_*6dup) c.*2193_*2195dup (n.*2193_*2195dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580888G>A | CA2588116119 | ADAMTS10 | c.*5C>T (n.*5C>T) c.*2194C>T (n.*2194C>T) | gnomAD v4 |
19 | g.8580888G>C | CA2321494701 | ADAMTS10 | c.*5C>G (n.*5C>G) c.*2194C>G (n.*2194C>G) | dbSNP gnomAD v4 |
19 | g.8580888G= | CA2321494700 | ADAMTS10 | c.*5C= (n.*5C=) c.*2194C= (n.*2194C=) | |
19 | g.8580888G>T | CA9159937 | ADAMTS10 | c.*5C>A (n.*5C>A) c.*2194C>A (n.*2194C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580888_8580890delinsGCC | CA2321494699 | ADAMTS10 | c.*3_*5delinsGGC (n.*3_*5delinsGGC) c.*2192_*2194delinsGGC (n.*2192_*2194delinsGGC) | |
19 | g.8580889C>A | CA2588116121 | ADAMTS10 | c.*4G>T (n.*4G>T) c.*2193G>T (n.*2193G>T) | gnomAD v4 |
19 | g.8580889C= | CA2321494702 | ADAMTS10 | c.*4G= (n.*4G=) c.*2193G= (n.*2193G=) | |
19 | g.8580889C>T | CA2321494703 | ADAMTS10 | c.*4G>A (n.*4G>A) c.*2193G>A (n.*2193G>A) | dbSNP gnomAD v4 |
19 | g.8580893dup | CA2588116120 | ADAMTS10 | c.*4dup (n.*4dup) c.*2193dup (n.*2193dup) | gnomAD v4 |
19 | g.8580893del | CA631364723 | ADAMTS10 | c.*4del (n.*4del) c.*2193del (n.*2193del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580892_8580893del | CA9159936 | ADAMTS10 | c.*3_*4del (n.*3_*4del) c.*2192_*2193del (n.*2192_*2193del) | dbSNP ExAC gnomAD v4 |
19 | g.8580890C= | CA2321494704 | ADAMTS10 | c.*3G= (n.*3G=) c.*2192G= (n.*2192G=) | |
19 | g.8580890C>T | CA631364724 | ADAMTS10 | c.*3G>A (n.*3G>A) c.*2192G>A (n.*2192G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8580891C>A | CA9159938 | ADAMTS10 | c.*2G>T (n.*2G>T) c.*2191G>T (n.*2191G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580891C= | CA2321494705 | ADAMTS10 | c.*2G= (n.*2G=) c.*2191G= (n.*2191G=) | |
19 | g.8580891C>T | CA2588116122 | ADAMTS10 | c.*2G>A (n.*2G>A) c.*2191G>A (n.*2191G>A) | gnomAD v4 |
19 | g.8580892C>A | CA2560334179 | ADAMTS10 | c.*1G>T (n.*1G>T) c.*2190G>T (n.*2190G>T) | gnomAD v4 |
19 | g.8580892C= | CA2321494706 | ADAMTS10 | c.*1G= (n.*1G=) c.*2190G= (n.*2190G=) | |
19 | g.8580892C>T | CA9159939 | ADAMTS10 | c.*1G>A (n.*1G>A) c.*2190G>A (n.*2190G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580892_8580894dup | CA2813516758 | ADAMTS10 | c.3311_*1dup (n.3311_*1dup) c.*2188_*2190dup (n.*2188_*2190dup) c.1772_*1dup (n.1772_*1dup) c.2354_*1dup (n.2354_*1dup) c.3458_*1dup (n.3458_*1dup) c.3134_*1dup (n.3134_*1dup) c.2027_*1dup (n.2027_*1dup) c.2021_*1dup (n.2021_*1dup) c.1880_*1dup (n.1880_*1dup) c.1874_*1dup (n.1874_*1dup) | |
19 | g.8580893C>A | CA9159940 | ADAMTS10 | c.3312G>T (p.Ter1104Tyr) c.*2189G>T (n.*2189G>T) c.1773G>T (p.Ter591Tyr) c.2355G>T (p.Ter785Tyr) c.3459G>T (p.Ter1153Tyr) c.3135G>T (p.Ter1045Tyr) c.2028G>T (p.Ter676Tyr) c.2022G>T (p.Ter674Tyr) c.1881G>T (p.Ter627Tyr) c.1875G>T (p.Ter625Tyr) | dbSNP ExAC gnomAD v4 |
19 | g.8580893C= | CA2321494707 | ADAMTS10 | c.3312G= (p.Ter1104=) c.*2189G= (n.*2189G=) c.1773G= (p.Ter591=) c.2355G= (p.Ter785=) c.3459G= (p.Ter1153=) c.3135G= (p.Ter1045=) c.2028G= (p.Ter676=) c.2022G= (p.Ter674=) c.1881G= (p.Ter627=) c.1875G= (p.Ter625=) | |
19 | g.8580893C>G | CA403747759 | ADAMTS10 | c.3312G>C (p.Ter1104Tyr) c.*2189G>C (n.*2189G>C) c.1773G>C (p.Ter591Tyr) c.2355G>C (p.Ter785Tyr) c.3459G>C (p.Ter1153Tyr) c.3135G>C (p.Ter1045Tyr) c.2028G>C (p.Ter676Tyr) c.2022G>C (p.Ter674Tyr) c.1881G>C (p.Ter627Tyr) c.1875G>C (p.Ter625Tyr) | |
19 | g.8580893C>T | CA505262826 | ADAMTS10 | c.3312G>A (p.Ter1104=) c.*2189G>A (n.*2189G>A) c.1773G>A (p.Ter591=) c.2355G>A (p.Ter785=) c.3459G>A (p.Ter1153=) c.3135G>A (p.Ter1045=) c.2028G>A (p.Ter676=) c.2022G>A (p.Ter674=) c.1881G>A (p.Ter627=) c.1875G>A (p.Ter625=) | |
19 | g.8580894T>A | CA403747760 | ADAMTS10 | c.3311A>T (p.Ter1104Leu) c.*2188A>T (n.*2188A>T) c.1772A>T (p.Ter591Leu) c.2354A>T (p.Ter785Leu) c.3458A>T (p.Ter1153Leu) c.3134A>T (p.Ter1045Leu) c.2027A>T (p.Ter676Leu) c.2021A>T (p.Ter674Leu) c.1880A>T (p.Ter627Leu) c.1874A>T (p.Ter625Leu) | |
19 | g.8580894T>C | CA403747761 | ADAMTS10 | c.3311A>G (p.Ter1104Trp) c.*2188A>G (n.*2188A>G) c.1772A>G (p.Ter591Trp) c.2354A>G (p.Ter785Trp) c.3458A>G (p.Ter1153Trp) c.3134A>G (p.Ter1045Trp) c.2027A>G (p.Ter676Trp) c.2021A>G (p.Ter674Trp) c.1880A>G (p.Ter627Trp) c.1874A>G (p.Ter625Trp) | |
19 | g.8580894T>G | CA403747762 | ADAMTS10 | c.3311A>C (p.Ter1104Ser) c.*2188A>C (n.*2188A>C) c.1772A>C (p.Ter591Ser) c.2354A>C (p.Ter785Ser) c.3458A>C (p.Ter1153Ser) c.3134A>C (p.Ter1045Ser) c.2027A>C (p.Ter676Ser) c.2021A>C (p.Ter674Ser) c.1880A>C (p.Ter627Ser) c.1874A>C (p.Ter625Ser) | |
19 | g.8580895_8580903del | CA2695228046 | ADAMTS10 | c.3303_3311del (p.His1101_Ter1104delinsGln) c.*2180_*2188del (n.*2180_*2188del) c.1764_1772del (p.His588_Ter591delinsGln) c.2346_2354del (p.His782_Ter785delinsGln) c.3450_3458del (p.His1150_Ter1153delinsGln) c.3126_3134del (p.His1042_Ter1045delinsGln) c.2019_2027del (p.His673_Ter676delinsGln) c.2013_2021del (p.His671_Ter674delinsGln) c.1872_1880del (p.His624_Ter627delinsGln) c.1866_1874del (p.His622_Ter625delinsGln) | |
19 | g.8580895A= | CA2321494708 | ADAMTS10 | c.3310T= (p.Ter1104=) c.*2187T= (n.*2187T=) c.1771T= (p.Ter591=) c.2353T= (p.Ter785=) c.3457T= (p.Ter1153=) c.3133T= (p.Ter1045=) c.2026T= (p.Ter676=) c.2020T= (p.Ter674=) c.1879T= (p.Ter627=) c.1873T= (p.Ter625=) | |
19 | g.8580895A>C | CA403747763 | ADAMTS10 | c.3310T>G (p.Ter1104Glu) c.*2187T>G (n.*2187T>G) c.1771T>G (p.Ter591Glu) c.2353T>G (p.Ter785Glu) c.3457T>G (p.Ter1153Glu) c.3133T>G (p.Ter1045Glu) c.2026T>G (p.Ter676Glu) c.2020T>G (p.Ter674Glu) c.1879T>G (p.Ter627Glu) c.1873T>G (p.Ter625Glu) | |
19 | g.8580895A>G | CA403747764 | ADAMTS10 | c.3310T>C (p.Ter1104Gln) c.*2187T>C (n.*2187T>C) c.1771T>C (p.Ter591Gln) c.2353T>C (p.Ter785Gln) c.3457T>C (p.Ter1153Gln) c.3133T>C (p.Ter1045Gln) c.2026T>C (p.Ter676Gln) c.2020T>C (p.Ter674Gln) c.1879T>C (p.Ter627Gln) c.1873T>C (p.Ter625Gln) | gnomAD v4 |
19 | g.8580895A>T | CA9159941 | ADAMTS10 | c.3310T>A (p.Ter1104Lys) c.*2187T>A (n.*2187T>A) c.1771T>A (p.Ter591Lys) c.2353T>A (p.Ter785Lys) c.3457T>A (p.Ter1153Lys) c.3133T>A (p.Ter1045Lys) c.2026T>A (p.Ter676Lys) c.2020T>A (p.Ter674Lys) c.1879T>A (p.Ter627Lys) c.1873T>A (p.Ter625Lys) | dbSNP ExAC |
19 | g.8580896G>A | CA505262830 | ADAMTS10 | c.3309C>T (p.His1103=) c.*2186C>T (n.*2186C>T) c.1770C>T (p.His590=) c.2352C>T (p.His784=) c.3456C>T (p.His1152=) c.3132C>T (p.His1044=) c.2025C>T (p.His675=) c.2019C>T (p.His673=) c.1878C>T (p.His626=) c.1872C>T (p.His624=) | |
19 | g.8580896G>C | CA403747765 | ADAMTS10 | c.3309C>G (p.His1103Gln) c.*2186C>G (n.*2186C>G) c.1770C>G (p.His590Gln) c.2352C>G (p.His784Gln) c.3456C>G (p.His1152Gln) c.3132C>G (p.His1044Gln) c.2025C>G (p.His675Gln) c.2019C>G (p.His673Gln) c.1878C>G (p.His626Gln) c.1872C>G (p.His624Gln) | |
19 | g.8580896G>T | CA403747766 | ADAMTS10 | c.3309C>A (p.His1103Gln) c.*2186C>A (n.*2186C>A) c.1770C>A (p.His590Gln) c.2352C>A (p.His784Gln) c.3456C>A (p.His1152Gln) c.3132C>A (p.His1044Gln) c.2025C>A (p.His675Gln) c.2019C>A (p.His673Gln) c.1878C>A (p.His626Gln) c.1872C>A (p.His624Gln) | gnomAD v4 |
19 | g.8580897T>A | CA403747767 | ADAMTS10 | c.3308A>T (p.His1103Leu) c.*2185A>T (n.*2185A>T) c.1769A>T (p.His590Leu) c.2351A>T (p.His784Leu) c.3455A>T (p.His1152Leu) c.3131A>T (p.His1044Leu) c.2024A>T (p.His675Leu) c.2018A>T (p.His673Leu) c.1877A>T (p.His626Leu) c.1871A>T (p.His624Leu) | |
19 | g.8580897T>C | CA403747768 | ADAMTS10 | c.3308A>G (p.His1103Arg) c.*2185A>G (n.*2185A>G) c.1769A>G (p.His590Arg) c.2351A>G (p.His784Arg) c.3455A>G (p.His1152Arg) c.3131A>G (p.His1044Arg) c.2024A>G (p.His675Arg) c.2018A>G (p.His673Arg) c.1877A>G (p.His626Arg) c.1871A>G (p.His624Arg) | |
19 | g.8580897T>G | CA403747769 | ADAMTS10 | c.3308A>C (p.His1103Pro) c.*2185A>C (n.*2185A>C) c.1769A>C (p.His590Pro) c.2351A>C (p.His784Pro) c.3455A>C (p.His1152Pro) c.3131A>C (p.His1044Pro) c.2024A>C (p.His675Pro) c.2018A>C (p.His673Pro) c.1877A>C (p.His626Pro) c.1871A>C (p.His624Pro) | |
19 | g.8580898G>A | CA403747771 | ADAMTS10 | c.3307C>T (p.His1103Tyr) c.*2184C>T (n.*2184C>T) c.1768C>T (p.His590Tyr) c.2350C>T (p.His784Tyr) c.3454C>T (p.His1152Tyr) c.3130C>T (p.His1044Tyr) c.2023C>T (p.His675Tyr) c.2017C>T (p.His673Tyr) c.1876C>T (p.His626Tyr) c.1870C>T (p.His624Tyr) | |
19 | g.8580898G>C | CA403747772 | ADAMTS10 | c.3307C>G (p.His1103Asp) c.*2184C>G (n.*2184C>G) c.1768C>G (p.His590Asp) c.2350C>G (p.His784Asp) c.3454C>G (p.His1152Asp) c.3130C>G (p.His1044Asp) c.2023C>G (p.His675Asp) c.2017C>G (p.His673Asp) c.1876C>G (p.His626Asp) c.1870C>G (p.His624Asp) | gnomAD v4 |
19 | g.8580898G>T | CA403747770 | ADAMTS10 | c.3307C>A (p.His1103Asn) c.*2184C>A (n.*2184C>A) c.1768C>A (p.His590Asn) c.2350C>A (p.His784Asn) c.3454C>A (p.His1152Asn) c.3130C>A (p.His1044Asn) c.2023C>A (p.His675Asn) c.2017C>A (p.His673Asn) c.1876C>A (p.His626Asn) c.1870C>A (p.His624Asn) | gnomAD v4 |
19 | g.8580899del | CA2588116123 | ADAMTS10 | c.3307del (p.His1103ThrfsTer?) c.*2184del (n.*2184del) c.1768del (p.His590ThrfsTer?) c.2350del (p.His784ThrfsTer?) c.3454del (p.His1152ThrfsTer?) c.3130del (p.His1044ThrfsTer?) c.2023del (p.His675ThrfsTer?) c.2017del (p.His673ThrfsTer?) c.1876del (p.His626ThrfsTer?) c.1870del (p.His624ThrfsTer?) | gnomAD v4 |
19 | g.8580899G>A | CA9159942 | ADAMTS10 | c.3306C>T (p.Gly1102=) c.*2183C>T (n.*2183C>T) c.1767C>T (p.Gly589=) c.2349C>T (p.Gly783=) c.3453C>T (p.Gly1151=) c.3129C>T (p.Gly1043=) c.2022C>T (p.Gly674=) c.2016C>T (p.Gly672=) c.1875C>T (p.Gly625=) c.1869C>T (p.Gly623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580899G>C | CA505262838 | ADAMTS10 | c.3306C>G (p.Gly1102=) c.*2183C>G (n.*2183C>G) c.1767C>G (p.Gly589=) c.2349C>G (p.Gly783=) c.3453C>G (p.Gly1151=) c.3129C>G (p.Gly1043=) c.2022C>G (p.Gly674=) c.2016C>G (p.Gly672=) c.1875C>G (p.Gly625=) c.1869C>G (p.Gly623=) | |
19 | g.8580899G= | CA2321494709 | ADAMTS10 | c.3306C= (p.Gly1102=) c.*2183C= (n.*2183C=) c.1767C= (p.Gly589=) c.2349C= (p.Gly783=) c.3453C= (p.Gly1151=) c.3129C= (p.Gly1043=) c.2022C= (p.Gly674=) c.2016C= (p.Gly672=) c.1875C= (p.Gly625=) c.1869C= (p.Gly623=) | |
19 | g.8580899G>T | CA505262839 | ADAMTS10 | c.3306C>A (p.Gly1102=) c.*2183C>A (n.*2183C>A) c.1767C>A (p.Gly589=) c.2349C>A (p.Gly783=) c.3453C>A (p.Gly1151=) c.3129C>A (p.Gly1043=) c.2022C>A (p.Gly674=) c.2016C>A (p.Gly672=) c.1875C>A (p.Gly625=) c.1869C>A (p.Gly623=) | ClinVar dbSNP gnomAD v4 |
19 | g.8580900C>A | CA403747773 | ADAMTS10 | c.3305G>T (p.Gly1102Val) c.*2182G>T (n.*2182G>T) c.1766G>T (p.Gly589Val) c.2348G>T (p.Gly783Val) c.3452G>T (p.Gly1151Val) c.3128G>T (p.Gly1043Val) c.2021G>T (p.Gly674Val) c.2015G>T (p.Gly672Val) c.1874G>T (p.Gly625Val) c.1868G>T (p.Gly623Val) | |
19 | g.8580900C>G | CA403747774 | ADAMTS10 | c.3305G>C (p.Gly1102Ala) c.*2182G>C (n.*2182G>C) c.1766G>C (p.Gly589Ala) c.2348G>C (p.Gly783Ala) c.3452G>C (p.Gly1151Ala) c.3128G>C (p.Gly1043Ala) c.2021G>C (p.Gly674Ala) c.2015G>C (p.Gly672Ala) c.1874G>C (p.Gly625Ala) c.1868G>C (p.Gly623Ala) | |
19 | g.8580900C>T | CA403747775 | ADAMTS10 | c.3305G>A (p.Gly1102Asp) c.*2182G>A (n.*2182G>A) c.1766G>A (p.Gly589Asp) c.2348G>A (p.Gly783Asp) c.3452G>A (p.Gly1151Asp) c.3128G>A (p.Gly1043Asp) c.2021G>A (p.Gly674Asp) c.2015G>A (p.Gly672Asp) c.1874G>A (p.Gly625Asp) c.1868G>A (p.Gly623Asp) | |
19 | g.8580901C>A | CA403747776 | ADAMTS10 | c.3304G>T (p.Gly1102Cys) c.*2181G>T (n.*2181G>T) c.1765G>T (p.Gly589Cys) c.2347G>T (p.Gly783Cys) c.3451G>T (p.Gly1151Cys) c.3127G>T (p.Gly1043Cys) c.2020G>T (p.Gly674Cys) c.2014G>T (p.Gly672Cys) c.1873G>T (p.Gly625Cys) c.1867G>T (p.Gly623Cys) | |
19 | g.8580901C>G | CA403747777 | ADAMTS10 | c.3304G>C (p.Gly1102Arg) c.*2181G>C (n.*2181G>C) c.1765G>C (p.Gly589Arg) c.2347G>C (p.Gly783Arg) c.3451G>C (p.Gly1151Arg) c.3127G>C (p.Gly1043Arg) c.2020G>C (p.Gly674Arg) c.2014G>C (p.Gly672Arg) c.1873G>C (p.Gly625Arg) c.1867G>C (p.Gly623Arg) | |
19 | g.8580901C>T | CA403747778 | ADAMTS10 | c.3304G>A (p.Gly1102Ser) c.*2181G>A (n.*2181G>A) c.1765G>A (p.Gly589Ser) c.2347G>A (p.Gly783Ser) c.3451G>A (p.Gly1151Ser) c.3127G>A (p.Gly1043Ser) c.2020G>A (p.Gly674Ser) c.2014G>A (p.Gly672Ser) c.1873G>A (p.Gly625Ser) c.1867G>A (p.Gly623Ser) | gnomAD v4 |
19 | g.8580902A= | CA2321494710 | ADAMTS10 | c.3303T= (p.His1101=) c.*2180T= (n.*2180T=) c.1764T= (p.His588=) c.2346T= (p.His782=) c.3450T= (p.His1150=) c.3126T= (p.His1042=) c.2019T= (p.His673=) c.2013T= (p.His671=) c.1872T= (p.His624=) c.1866T= (p.His622=) | |
19 | g.8580902A>C | CA9159943 | ADAMTS10 | c.3303T>G (p.His1101Gln) c.*2180T>G (n.*2180T>G) c.1764T>G (p.His588Gln) c.2346T>G (p.His782Gln) c.3450T>G (p.His1150Gln) c.3126T>G (p.His1042Gln) c.2019T>G (p.His673Gln) c.2013T>G (p.His671Gln) c.1872T>G (p.His624Gln) c.1866T>G (p.His622Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580902A>G | CA505262847 | ADAMTS10 | c.3303T>C (p.His1101=) c.*2180T>C (n.*2180T>C) c.1764T>C (p.His588=) c.2346T>C (p.His782=) c.3450T>C (p.His1150=) c.3126T>C (p.His1042=) c.2019T>C (p.His673=) c.2013T>C (p.His671=) c.1872T>C (p.His624=) c.1866T>C (p.His622=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580902A>T | CA403747779 | ADAMTS10 | c.3303T>A (p.His1101Gln) c.*2180T>A (n.*2180T>A) c.1764T>A (p.His588Gln) c.2346T>A (p.His782Gln) c.3450T>A (p.His1150Gln) c.3126T>A (p.His1042Gln) c.2019T>A (p.His673Gln) c.2013T>A (p.His671Gln) c.1872T>A (p.His624Gln) c.1866T>A (p.His622Gln) | gnomAD v3 gnomAD v4 |
19 | g.8580903T>A | CA403747780 | ADAMTS10 | c.3302A>T (p.His1101Leu) c.*2179A>T (n.*2179A>T) c.1763A>T (p.His588Leu) c.2345A>T (p.His782Leu) c.3449A>T (p.His1150Leu) c.3125A>T (p.His1042Leu) c.2018A>T (p.His673Leu) c.2012A>T (p.His671Leu) c.1871A>T (p.His624Leu) c.1865A>T (p.His622Leu) | |
19 | g.8580903T>C | CA403747781 | ADAMTS10 | c.3302A>G (p.His1101Arg) c.*2179A>G (n.*2179A>G) c.1763A>G (p.His588Arg) c.2345A>G (p.His782Arg) c.3449A>G (p.His1150Arg) c.3125A>G (p.His1042Arg) c.2018A>G (p.His673Arg) c.2012A>G (p.His671Arg) c.1871A>G (p.His624Arg) c.1865A>G (p.His622Arg) | |
19 | g.8580903T>G | CA403747782 | ADAMTS10 | c.3302A>C (p.His1101Pro) c.*2179A>C (n.*2179A>C) c.1763A>C (p.His588Pro) c.2345A>C (p.His782Pro) c.3449A>C (p.His1150Pro) c.3125A>C (p.His1042Pro) c.2018A>C (p.His673Pro) c.2012A>C (p.His671Pro) c.1871A>C (p.His624Pro) c.1865A>C (p.His622Pro) | |
19 | g.8580904G>A | CA403747785 | ADAMTS10 | c.3301C>T (p.His1101Tyr) c.*2178C>T (n.*2178C>T) c.1762C>T (p.His588Tyr) c.2344C>T (p.His782Tyr) c.3448C>T (p.His1150Tyr) c.3124C>T (p.His1042Tyr) c.2017C>T (p.His673Tyr) c.2011C>T (p.His671Tyr) c.1870C>T (p.His624Tyr) c.1864C>T (p.His622Tyr) | |
19 | g.8580904G>C | CA403747784 | ADAMTS10 | c.3301C>G (p.His1101Asp) c.*2178C>G (n.*2178C>G) c.1762C>G (p.His588Asp) c.2344C>G (p.His782Asp) c.3448C>G (p.His1150Asp) c.3124C>G (p.His1042Asp) c.2017C>G (p.His673Asp) c.2011C>G (p.His671Asp) c.1870C>G (p.His624Asp) c.1864C>G (p.His622Asp) | |
19 | g.8580904G>T | CA403747783 | ADAMTS10 | c.3301C>A (p.His1101Asn) c.*2178C>A (n.*2178C>A) c.1762C>A (p.His588Asn) c.2344C>A (p.His782Asn) c.3448C>A (p.His1150Asn) c.3124C>A (p.His1042Asn) c.2017C>A (p.His673Asn) c.2011C>A (p.His671Asn) c.1870C>A (p.His624Asn) c.1864C>A (p.His622Asn) | gnomAD v4 |
19 | g.8580905del | CA2576607678 | ADAMTS10 | c.3301del (p.His1101MetfsTer?) c.*2178del (n.*2178del) c.1762del (p.His588MetfsTer?) c.2344del (p.His782MetfsTer?) c.3448del (p.His1150MetfsTer?) c.3124del (p.His1042MetfsTer?) c.2017del (p.His673MetfsTer?) c.2011del (p.His671MetfsTer?) c.1870del (p.His624MetfsTer?) c.1864del (p.His622MetfsTer?) | |
19 | g.8580905G>A | CA9159944 | ADAMTS10 | c.3300C>T (p.Cys1100=) c.*2177C>T (n.*2177C>T) c.1761C>T (p.Cys587=) c.2343C>T (p.Cys781=) c.3447C>T (p.Cys1149=) c.3123C>T (p.Cys1041=) c.2016C>T (p.Cys672=) c.2010C>T (p.Cys670=) c.1869C>T (p.Cys623=) c.1863C>T (p.Cys621=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.8580905G>C | CA403747786 | ADAMTS10 | c.3300C>G (p.Cys1100Trp) c.*2177C>G (n.*2177C>G) c.1761C>G (p.Cys587Trp) c.2343C>G (p.Cys781Trp) c.3447C>G (p.Cys1149Trp) c.3123C>G (p.Cys1041Trp) c.2016C>G (p.Cys672Trp) c.2010C>G (p.Cys670Trp) c.1869C>G (p.Cys623Trp) c.1863C>G (p.Cys621Trp) | |
19 | g.8580905G= | CA2321494711 | ADAMTS10 | c.3300C= (p.Cys1100=) c.*2177C= (n.*2177C=) c.1761C= (p.Cys587=) c.2343C= (p.Cys781=) c.3447C= (p.Cys1149=) c.3123C= (p.Cys1041=) c.2016C= (p.Cys672=) c.2010C= (p.Cys670=) c.1869C= (p.Cys623=) c.1863C= (p.Cys621=) | |
19 | g.8580905G>T | CA403747787 | ADAMTS10 | c.3300C>A (p.Cys1100Ter) c.*2177C>A (n.*2177C>A) c.1761C>A (p.Cys587Ter) c.2343C>A (p.Cys781Ter) c.3447C>A (p.Cys1149Ter) c.3123C>A (p.Cys1041Ter) c.2016C>A (p.Cys672Ter) c.2010C>A (p.Cys670Ter) c.1869C>A (p.Cys623Ter) c.1863C>A (p.Cys621Ter) | gnomAD v4 |
19 | g.8580906C>A | CA403747788 | ADAMTS10 | c.3299G>T (p.Cys1100Phe) c.*2176G>T (n.*2176G>T) c.1760G>T (p.Cys587Phe) c.2342G>T (p.Cys781Phe) c.3446G>T (p.Cys1149Phe) c.3122G>T (p.Cys1041Phe) c.2015G>T (p.Cys672Phe) c.2009G>T (p.Cys670Phe) c.1868G>T (p.Cys623Phe) c.1862G>T (p.Cys621Phe) | gnomAD v4 |
19 | g.8580906C>G | CA403747789 | ADAMTS10 | c.3299G>C (p.Cys1100Ser) c.*2176G>C (n.*2176G>C) c.1760G>C (p.Cys587Ser) c.2342G>C (p.Cys781Ser) c.3446G>C (p.Cys1149Ser) c.3122G>C (p.Cys1041Ser) c.2015G>C (p.Cys672Ser) c.2009G>C (p.Cys670Ser) c.1868G>C (p.Cys623Ser) c.1862G>C (p.Cys621Ser) | |
19 | g.8580906C>T | CA403747791 | ADAMTS10 | c.3299G>A (p.Cys1100Tyr) c.*2176G>A (n.*2176G>A) c.1760G>A (p.Cys587Tyr) c.2342G>A (p.Cys781Tyr) c.3446G>A (p.Cys1149Tyr) c.3122G>A (p.Cys1041Tyr) c.2015G>A (p.Cys672Tyr) c.2009G>A (p.Cys670Tyr) c.1868G>A (p.Cys623Tyr) c.1862G>A (p.Cys621Tyr) | gnomAD v4 |
19 | g.8580907A>C | CA403747792 | ADAMTS10 | c.3298T>G (p.Cys1100Gly) c.*2175T>G (n.*2175T>G) c.1759T>G (p.Cys587Gly) c.2341T>G (p.Cys781Gly) c.3445T>G (p.Cys1149Gly) c.3121T>G (p.Cys1041Gly) c.2014T>G (p.Cys672Gly) c.2008T>G (p.Cys670Gly) c.1867T>G (p.Cys623Gly) c.1861T>G (p.Cys621Gly) | gnomAD v4 |
19 | g.8580907A>G | CA403747793 | ADAMTS10 | c.3298T>C (p.Cys1100Arg) c.*2175T>C (n.*2175T>C) c.1759T>C (p.Cys587Arg) c.2341T>C (p.Cys781Arg) c.3445T>C (p.Cys1149Arg) c.3121T>C (p.Cys1041Arg) c.2014T>C (p.Cys672Arg) c.2008T>C (p.Cys670Arg) c.1867T>C (p.Cys623Arg) c.1861T>C (p.Cys621Arg) | |
19 | g.8580907A>T | CA403747794 | ADAMTS10 | c.3298T>A (p.Cys1100Ser) c.*2175T>A (n.*2175T>A) c.1759T>A (p.Cys587Ser) c.2341T>A (p.Cys781Ser) c.3445T>A (p.Cys1149Ser) c.3121T>A (p.Cys1041Ser) c.2014T>A (p.Cys672Ser) c.2008T>A (p.Cys670Ser) c.1867T>A (p.Cys623Ser) c.1861T>A (p.Cys621Ser) | |
19 | g.8580908G>A | CA505262885 | ADAMTS10 | c.3297C>T (p.Thr1099=) c.*2174C>T (n.*2174C>T) c.1758C>T (p.Thr586=) c.2340C>T (p.Thr780=) c.3444C>T (p.Thr1148=) c.3120C>T (p.Thr1040=) c.2013C>T (p.Thr671=) c.2007C>T (p.Thr669=) c.1866C>T (p.Thr622=) c.1860C>T (p.Thr620=) | gnomAD v4 |
19 | g.8580908G>C | CA505262887 | ADAMTS10 | c.3297C>G (p.Thr1099=) c.*2174C>G (n.*2174C>G) c.1758C>G (p.Thr586=) c.2340C>G (p.Thr780=) c.3444C>G (p.Thr1148=) c.3120C>G (p.Thr1040=) c.2013C>G (p.Thr671=) c.2007C>G (p.Thr669=) c.1866C>G (p.Thr622=) c.1860C>G (p.Thr620=) | |
19 | g.8580908G>T | CA505262889 | ADAMTS10 | c.3297C>A (p.Thr1099=) c.*2174C>A (n.*2174C>A) c.1758C>A (p.Thr586=) c.2340C>A (p.Thr780=) c.3444C>A (p.Thr1148=) c.3120C>A (p.Thr1040=) c.2013C>A (p.Thr671=) c.2007C>A (p.Thr669=) c.1866C>A (p.Thr622=) c.1860C>A (p.Thr620=) | gnomAD v4 |
19 | g.8580909G>A | CA403747795 | ADAMTS10 | c.3296C>T (p.Thr1099Ile) c.*2173C>T (n.*2173C>T) c.1757C>T (p.Thr586Ile) c.2339C>T (p.Thr780Ile) c.3443C>T (p.Thr1148Ile) c.3119C>T (p.Thr1040Ile) c.2012C>T (p.Thr671Ile) c.2006C>T (p.Thr669Ile) c.1865C>T (p.Thr622Ile) c.1859C>T (p.Thr620Ile) | |
19 | g.8580909G>C | CA403747796 | ADAMTS10 | c.3296C>G (p.Thr1099Ser) c.*2173C>G (n.*2173C>G) c.1757C>G (p.Thr586Ser) c.2339C>G (p.Thr780Ser) c.3443C>G (p.Thr1148Ser) c.3119C>G (p.Thr1040Ser) c.2012C>G (p.Thr671Ser) c.2006C>G (p.Thr669Ser) c.1865C>G (p.Thr622Ser) c.1859C>G (p.Thr620Ser) | |
19 | g.8580909G>T | CA403747797 | ADAMTS10 | c.3296C>A (p.Thr1099Asn) c.*2173C>A (n.*2173C>A) c.1757C>A (p.Thr586Asn) c.2339C>A (p.Thr780Asn) c.3443C>A (p.Thr1148Asn) c.3119C>A (p.Thr1040Asn) c.2012C>A (p.Thr671Asn) c.2006C>A (p.Thr669Asn) c.1865C>A (p.Thr622Asn) c.1859C>A (p.Thr620Asn) | |
19 | g.8580910T>A | CA403747798 | ADAMTS10 | c.3295A>T (p.Thr1099Ser) c.*2172A>T (n.*2172A>T) c.1756A>T (p.Thr586Ser) c.2338A>T (p.Thr780Ser) c.3442A>T (p.Thr1148Ser) c.3118A>T (p.Thr1040Ser) c.2011A>T (p.Thr671Ser) c.2005A>T (p.Thr669Ser) c.1864A>T (p.Thr622Ser) c.1858A>T (p.Thr620Ser) | |
19 | g.8580910T>C | CA403747799 | ADAMTS10 | c.3295A>G (p.Thr1099Ala) c.*2172A>G (n.*2172A>G) c.1756A>G (p.Thr586Ala) c.2338A>G (p.Thr780Ala) c.3442A>G (p.Thr1148Ala) c.3118A>G (p.Thr1040Ala) c.2011A>G (p.Thr671Ala) c.2005A>G (p.Thr669Ala) c.1864A>G (p.Thr622Ala) c.1858A>G (p.Thr620Ala) | |
19 | g.8580910T>G | CA9159945 | ADAMTS10 | c.3295A>C (p.Thr1099Pro) c.*2172A>C (n.*2172A>C) c.1756A>C (p.Thr586Pro) c.2338A>C (p.Thr780Pro) c.3442A>C (p.Thr1148Pro) c.3118A>C (p.Thr1040Pro) c.2011A>C (p.Thr671Pro) c.2005A>C (p.Thr669Pro) c.1864A>C (p.Thr622Pro) c.1858A>C (p.Thr620Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.8580910T= | CA2321494712 | ADAMTS10 | c.3295A= (p.Thr1099=) c.*2172A= (n.*2172A=) c.1756A= (p.Thr586=) c.2338A= (p.Thr780=) c.3442A= (p.Thr1148=) c.3118A= (p.Thr1040=) c.2011A= (p.Thr671=) c.2005A= (p.Thr669=) c.1864A= (p.Thr622=) c.1858A= (p.Thr620=) | |
19 | g.8580913del | CA2576607679 | ADAMTS10 | c.3295del (p.Thr1099ProfsTer?) c.*2172del (n.*2172del) c.1756del (p.Thr586ProfsTer?) c.2338del (p.Thr780ProfsTer?) c.3442del (p.Thr1148ProfsTer?) c.3118del (p.Thr1040ProfsTer?) c.2011del (p.Thr671ProfsTer?) c.2005del (p.Thr669ProfsTer?) c.1864del (p.Thr622ProfsTer?) c.1858del (p.Thr620ProfsTer?) | gnomAD v4 |
19 | g.8580911T>A | CA403747800 | ADAMTS10 | c.3294A>T (p.Lys1098Asn) c.*2171A>T (n.*2171A>T) c.1755A>T (p.Lys585Asn) c.2337A>T (p.Lys779Asn) c.3441A>T (p.Lys1147Asn) c.3117A>T (p.Lys1039Asn) c.2010A>T (p.Lys670Asn) c.2004A>T (p.Lys668Asn) c.1863A>T (p.Lys621Asn) c.1857A>T (p.Lys619Asn) | |
19 | g.8580911T>C | CA505262906 | ADAMTS10 | c.3294A>G (p.Lys1098=) c.*2171A>G (n.*2171A>G) c.1755A>G (p.Lys585=) c.2337A>G (p.Lys779=) c.3441A>G (p.Lys1147=) c.3117A>G (p.Lys1039=) c.2010A>G (p.Lys670=) c.2004A>G (p.Lys668=) c.1863A>G (p.Lys621=) c.1857A>G (p.Lys619=) | |
19 | g.8580911T>G | CA403747801 | ADAMTS10 | c.3294A>C (p.Lys1098Asn) c.*2171A>C (n.*2171A>C) c.1755A>C (p.Lys585Asn) c.2337A>C (p.Lys779Asn) c.3441A>C (p.Lys1147Asn) c.3117A>C (p.Lys1039Asn) c.2010A>C (p.Lys670Asn) c.2004A>C (p.Lys668Asn) c.1863A>C (p.Lys621Asn) c.1857A>C (p.Lys619Asn) | |
19 | g.8580912T>A | CA403747802 | ADAMTS10 | c.3293A>T (p.Lys1098Ile) c.*2170A>T (n.*2170A>T) c.1754A>T (p.Lys585Ile) c.2336A>T (p.Lys779Ile) c.3440A>T (p.Lys1147Ile) c.3116A>T (p.Lys1039Ile) c.2009A>T (p.Lys670Ile) c.2003A>T (p.Lys668Ile) c.1862A>T (p.Lys621Ile) c.1856A>T (p.Lys619Ile) | |
19 | g.8580912T>C | CA403747803 | ADAMTS10 | c.3293A>G (p.Lys1098Arg) c.*2170A>G (n.*2170A>G) c.1754A>G (p.Lys585Arg) c.2336A>G (p.Lys779Arg) c.3440A>G (p.Lys1147Arg) c.3116A>G (p.Lys1039Arg) c.2009A>G (p.Lys670Arg) c.2003A>G (p.Lys668Arg) c.1862A>G (p.Lys621Arg) c.1856A>G (p.Lys619Arg) | |
19 | g.8580912T>G | CA403747804 | ADAMTS10 | c.3293A>C (p.Lys1098Thr) c.*2170A>C (n.*2170A>C) c.1754A>C (p.Lys585Thr) c.2336A>C (p.Lys779Thr) c.3440A>C (p.Lys1147Thr) c.3116A>C (p.Lys1039Thr) c.2009A>C (p.Lys670Thr) c.2003A>C (p.Lys668Thr) c.1862A>C (p.Lys621Thr) c.1856A>C (p.Lys619Thr) | |
19 | g.8580913T>A | CA403747805 | ADAMTS10 | c.3292A>T (p.Lys1098Ter) c.*2169A>T (n.*2169A>T) c.1753A>T (p.Lys585Ter) c.2335A>T (p.Lys779Ter) c.3439A>T (p.Lys1147Ter) c.3115A>T (p.Lys1039Ter) c.2008A>T (p.Lys670Ter) c.2002A>T (p.Lys668Ter) c.1861A>T (p.Lys621Ter) c.1855A>T (p.Lys619Ter) | |
19 | g.8580913T>C | CA403747806 | ADAMTS10 | c.3292A>G (p.Lys1098Glu) c.*2169A>G (n.*2169A>G) c.1753A>G (p.Lys585Glu) c.2335A>G (p.Lys779Glu) c.3439A>G (p.Lys1147Glu) c.3115A>G (p.Lys1039Glu) c.2008A>G (p.Lys670Glu) c.2002A>G (p.Lys668Glu) c.1861A>G (p.Lys621Glu) c.1855A>G (p.Lys619Glu) | |
19 | g.8580913T>G | CA403747807 | ADAMTS10 | c.3292A>C (p.Lys1098Gln) c.*2169A>C (n.*2169A>C) c.1753A>C (p.Lys585Gln) c.2335A>C (p.Lys779Gln) c.3439A>C (p.Lys1147Gln) c.3115A>C (p.Lys1039Gln) c.2008A>C (p.Lys670Gln) c.2002A>C (p.Lys668Gln) c.1861A>C (p.Lys621Gln) c.1855A>C (p.Lys619Gln) | gnomAD v4 |
19 | g.8580914G>A | CA505262921 | ADAMTS10 | c.3291C>T (p.Cys1097=) c.*2168C>T (n.*2168C>T) c.1752C>T (p.Cys584=) c.2334C>T (p.Cys778=) c.3438C>T (p.Cys1146=) c.3114C>T (p.Cys1038=) c.2007C>T (p.Cys669=) c.2001C>T (p.Cys667=) c.1860C>T (p.Cys620=) c.1854C>T (p.Cys618=) | |
19 | g.8580914G>C | CA403747808 | ADAMTS10 | c.3291C>G (p.Cys1097Trp) c.*2168C>G (n.*2168C>G) c.1752C>G (p.Cys584Trp) c.2334C>G (p.Cys778Trp) c.3438C>G (p.Cys1146Trp) c.3114C>G (p.Cys1038Trp) c.2007C>G (p.Cys669Trp) c.2001C>G (p.Cys667Trp) c.1860C>G (p.Cys620Trp) c.1854C>G (p.Cys618Trp) | |
19 | g.8580914G>T | CA403747809 | ADAMTS10 | c.3291C>A (p.Cys1097Ter) c.*2168C>A (n.*2168C>A) c.1752C>A (p.Cys584Ter) c.2334C>A (p.Cys778Ter) c.3438C>A (p.Cys1146Ter) c.3114C>A (p.Cys1038Ter) c.2007C>A (p.Cys669Ter) c.2001C>A (p.Cys667Ter) c.1860C>A (p.Cys620Ter) c.1854C>A (p.Cys618Ter) | |
19 | g.8580915C>A | CA403747810 | ADAMTS10 | c.3290G>T (p.Cys1097Phe) c.*2167G>T (n.*2167G>T) c.1751G>T (p.Cys584Phe) c.2333G>T (p.Cys778Phe) c.3437G>T (p.Cys1146Phe) c.3113G>T (p.Cys1038Phe) c.2006G>T (p.Cys669Phe) c.2000G>T (p.Cys667Phe) c.1859G>T (p.Cys620Phe) c.1853G>T (p.Cys618Phe) | |
19 | g.8580915C>G | CA403747811 | ADAMTS10 | c.3290G>C (p.Cys1097Ser) c.*2167G>C (n.*2167G>C) c.1751G>C (p.Cys584Ser) c.2333G>C (p.Cys778Ser) c.3437G>C (p.Cys1146Ser) c.3113G>C (p.Cys1038Ser) c.2006G>C (p.Cys669Ser) c.2000G>C (p.Cys667Ser) c.1859G>C (p.Cys620Ser) c.1853G>C (p.Cys618Ser) | |
19 | g.8580915C>T | CA403747812 | ADAMTS10 | c.3290G>A (p.Cys1097Tyr) c.*2167G>A (n.*2167G>A) c.1751G>A (p.Cys584Tyr) c.2333G>A (p.Cys778Tyr) c.3437G>A (p.Cys1146Tyr) c.3113G>A (p.Cys1038Tyr) c.2006G>A (p.Cys669Tyr) c.2000G>A (p.Cys667Tyr) c.1859G>A (p.Cys620Tyr) c.1853G>A (p.Cys618Tyr) | gnomAD v4 COSMIC |
19 | g.8580916A>C | CA403747815 | ADAMTS10 | c.3289T>G (p.Cys1097Gly) c.*2166T>G (n.*2166T>G) c.1750T>G (p.Cys584Gly) c.2332T>G (p.Cys778Gly) c.3436T>G (p.Cys1146Gly) c.3112T>G (p.Cys1038Gly) c.2005T>G (p.Cys669Gly) c.1999T>G (p.Cys667Gly) c.1858T>G (p.Cys620Gly) c.1852T>G (p.Cys618Gly) | |
19 | g.8580916A>G | CA403747814 | ADAMTS10 | c.3289T>C (p.Cys1097Arg) c.*2166T>C (n.*2166T>C) c.1750T>C (p.Cys584Arg) c.2332T>C (p.Cys778Arg) c.3436T>C (p.Cys1146Arg) c.3112T>C (p.Cys1038Arg) c.2005T>C (p.Cys669Arg) c.1999T>C (p.Cys667Arg) c.1858T>C (p.Cys620Arg) c.1852T>C (p.Cys618Arg) | gnomAD v4 |
19 | g.8580916A>T | CA403747813 | ADAMTS10 | c.3289T>A (p.Cys1097Ser) c.*2166T>A (n.*2166T>A) c.1750T>A (p.Cys584Ser) c.2332T>A (p.Cys778Ser) c.3436T>A (p.Cys1146Ser) c.3112T>A (p.Cys1038Ser) c.2005T>A (p.Cys669Ser) c.1999T>A (p.Cys667Ser) c.1858T>A (p.Cys620Ser) c.1852T>A (p.Cys618Ser) | |
19 | g.8580917G>A | CA505262938 | ADAMTS10 | c.3288C>T (p.Cys1096=) c.*2165C>T (n.*2165C>T) c.1749C>T (p.Cys583=) c.2331C>T (p.Cys777=) c.3435C>T (p.Cys1145=) c.3111C>T (p.Cys1037=) c.2004C>T (p.Cys668=) c.1998C>T (p.Cys666=) c.1857C>T (p.Cys619=) c.1851C>T (p.Cys617=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580917G>C | CA403747816 | ADAMTS10 | c.3288C>G (p.Cys1096Trp) c.*2165C>G (n.*2165C>G) c.1749C>G (p.Cys583Trp) c.2331C>G (p.Cys777Trp) c.3435C>G (p.Cys1145Trp) c.3111C>G (p.Cys1037Trp) c.2004C>G (p.Cys668Trp) c.1998C>G (p.Cys666Trp) c.1857C>G (p.Cys619Trp) c.1851C>G (p.Cys617Trp) | |
19 | g.8580917G= | CA2321494713 | ADAMTS10 | c.3288C= (p.Cys1096=) c.*2165C= (n.*2165C=) c.1749C= (p.Cys583=) c.2331C= (p.Cys777=) c.3435C= (p.Cys1145=) c.3111C= (p.Cys1037=) c.2004C= (p.Cys668=) c.1998C= (p.Cys666=) c.1857C= (p.Cys619=) c.1851C= (p.Cys617=) | |
19 | g.8580917G>T | CA403747817 | ADAMTS10 | c.3288C>A (p.Cys1096Ter) c.*2165C>A (n.*2165C>A) c.1749C>A (p.Cys583Ter) c.2331C>A (p.Cys777Ter) c.3435C>A (p.Cys1145Ter) c.3111C>A (p.Cys1037Ter) c.2004C>A (p.Cys668Ter) c.1998C>A (p.Cys666Ter) c.1857C>A (p.Cys619Ter) c.1851C>A (p.Cys617Ter) | gnomAD v4 |
19 | g.8580918C>A | CA403747818 | ADAMTS10 | c.3287G>T (p.Cys1096Phe) c.*2164G>T (n.*2164G>T) c.1748G>T (p.Cys583Phe) c.2330G>T (p.Cys777Phe) c.3434G>T (p.Cys1145Phe) c.3110G>T (p.Cys1037Phe) c.2003G>T (p.Cys668Phe) c.1997G>T (p.Cys666Phe) c.1856G>T (p.Cys619Phe) c.1850G>T (p.Cys617Phe) | COSMIC |
19 | g.8580918C>G | CA403747819 | ADAMTS10 | c.3287G>C (p.Cys1096Ser) c.*2164G>C (n.*2164G>C) c.1748G>C (p.Cys583Ser) c.2330G>C (p.Cys777Ser) c.3434G>C (p.Cys1145Ser) c.3110G>C (p.Cys1037Ser) c.2003G>C (p.Cys668Ser) c.1997G>C (p.Cys666Ser) c.1856G>C (p.Cys619Ser) c.1850G>C (p.Cys617Ser) | |
19 | g.8580918C>T | CA403747820 | ADAMTS10 | c.3287G>A (p.Cys1096Tyr) c.*2164G>A (n.*2164G>A) c.1748G>A (p.Cys583Tyr) c.2330G>A (p.Cys777Tyr) c.3434G>A (p.Cys1145Tyr) c.3110G>A (p.Cys1037Tyr) c.2003G>A (p.Cys668Tyr) c.1997G>A (p.Cys666Tyr) c.1856G>A (p.Cys619Tyr) c.1850G>A (p.Cys617Tyr) | |
19 | g.8580919A>C | CA403747821 | ADAMTS10 | c.3286T>G (p.Cys1096Gly) c.*2163T>G (n.*2163T>G) c.1747T>G (p.Cys583Gly) c.2329T>G (p.Cys777Gly) c.3433T>G (p.Cys1145Gly) c.3109T>G (p.Cys1037Gly) c.2002T>G (p.Cys668Gly) c.1996T>G (p.Cys666Gly) c.1855T>G (p.Cys619Gly) c.1849T>G (p.Cys617Gly) | |
19 | g.8580919A>G | CA403747822 | ADAMTS10 | c.3286T>C (p.Cys1096Arg) c.*2163T>C (n.*2163T>C) c.1747T>C (p.Cys583Arg) c.2329T>C (p.Cys777Arg) c.3433T>C (p.Cys1145Arg) c.3109T>C (p.Cys1037Arg) c.2002T>C (p.Cys668Arg) c.1996T>C (p.Cys666Arg) c.1855T>C (p.Cys619Arg) c.1849T>C (p.Cys617Arg) | |
19 | g.8580919A>T | CA403747823 | ADAMTS10 | c.3286T>A (p.Cys1096Ser) c.*2163T>A (n.*2163T>A) c.1747T>A (p.Cys583Ser) c.2329T>A (p.Cys777Ser) c.3433T>A (p.Cys1145Ser) c.3109T>A (p.Cys1037Ser) c.2002T>A (p.Cys668Ser) c.1996T>A (p.Cys666Ser) c.1855T>A (p.Cys619Ser) c.1849T>A (p.Cys617Ser) | |
19 | g.8580920C>A | CA403747824 | ADAMTS10 | c.3285G>T (p.Met1095Ile) c.*2162G>T (n.*2162G>T) c.1746G>T (p.Met582Ile) c.2328G>T (p.Met776Ile) c.3432G>T (p.Met1144Ile) c.3108G>T (p.Met1036Ile) c.2001G>T (p.Met667Ile) c.1995G>T (p.Met665Ile) c.1854G>T (p.Met618Ile) c.1848G>T (p.Met616Ile) | |
19 | g.8580920C= | CA2321494714 | ADAMTS10 | c.3285G= (p.Met1095=) c.*2162G= (n.*2162G=) c.1746G= (p.Met582=) c.2328G= (p.Met776=) c.3432G= (p.Met1144=) c.3108G= (p.Met1036=) c.2001G= (p.Met667=) c.1995G= (p.Met665=) c.1854G= (p.Met618=) c.1848G= (p.Met616=) | |
19 | g.8580920C>G | CA403747825 | ADAMTS10 | c.3285G>C (p.Met1095Ile) c.*2162G>C (n.*2162G>C) c.1746G>C (p.Met582Ile) c.2328G>C (p.Met776Ile) c.3432G>C (p.Met1144Ile) c.3108G>C (p.Met1036Ile) c.2001G>C (p.Met667Ile) c.1995G>C (p.Met665Ile) c.1854G>C (p.Met618Ile) c.1848G>C (p.Met616Ile) | |
19 | g.8580920C>T | CA403747826 | ADAMTS10 | c.3285G>A (p.Met1095Ile) c.*2162G>A (n.*2162G>A) c.1746G>A (p.Met582Ile) c.2328G>A (p.Met776Ile) c.3432G>A (p.Met1144Ile) c.3108G>A (p.Met1036Ile) c.2001G>A (p.Met667Ile) c.1995G>A (p.Met665Ile) c.1854G>A (p.Met618Ile) c.1848G>A (p.Met616Ile) | dbSNP |
19 | g.8580921A= | CA2321494715 | ADAMTS10 | c.3284T= (p.Met1095=) c.*2161T= (n.*2161T=) c.1745T= (p.Met582=) c.2327T= (p.Met776=) c.3431T= (p.Met1144=) c.3107T= (p.Met1036=) c.2000T= (p.Met667=) c.1994T= (p.Met665=) c.1853T= (p.Met618=) c.1847T= (p.Met616=) | |
19 | g.8580921A>C | CA403747827 | ADAMTS10 | c.3284T>G (p.Met1095Arg) c.*2161T>G (n.*2161T>G) c.1745T>G (p.Met582Arg) c.2327T>G (p.Met776Arg) c.3431T>G (p.Met1144Arg) c.3107T>G (p.Met1036Arg) c.2000T>G (p.Met667Arg) c.1994T>G (p.Met665Arg) c.1853T>G (p.Met618Arg) c.1847T>G (p.Met616Arg) | |
19 | g.8580921A>G | CA403747828 | ADAMTS10 | c.3284T>C (p.Met1095Thr) c.*2161T>C (n.*2161T>C) c.1745T>C (p.Met582Thr) c.2327T>C (p.Met776Thr) c.3431T>C (p.Met1144Thr) c.3107T>C (p.Met1036Thr) c.2000T>C (p.Met667Thr) c.1994T>C (p.Met665Thr) c.1853T>C (p.Met618Thr) c.1847T>C (p.Met616Thr) | dbSNP |
19 | g.8580921A>T | CA403747829 | ADAMTS10 | c.3284T>A (p.Met1095Lys) c.*2161T>A (n.*2161T>A) c.1745T>A (p.Met582Lys) c.2327T>A (p.Met776Lys) c.3431T>A (p.Met1144Lys) c.3107T>A (p.Met1036Lys) c.2000T>A (p.Met667Lys) c.1994T>A (p.Met665Lys) c.1853T>A (p.Met618Lys) c.1847T>A (p.Met616Lys) | |
19 | g.8580922T>A | CA9159946 | ADAMTS10 | c.3283A>T (p.Met1095Leu) c.*2160A>T (n.*2160A>T) c.1744A>T (p.Met582Leu) c.2326A>T (p.Met776Leu) c.3430A>T (p.Met1144Leu) c.3106A>T (p.Met1036Leu) c.1999A>T (p.Met667Leu) c.1993A>T (p.Met665Leu) c.1852A>T (p.Met618Leu) c.1846A>T (p.Met616Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.8580922T>C | CA403747832 | ADAMTS10 | c.3283A>G (p.Met1095Val) c.*2160A>G (n.*2160A>G) c.1744A>G (p.Met582Val) c.2326A>G (p.Met776Val) c.3430A>G (p.Met1144Val) c.3106A>G (p.Met1036Val) c.1999A>G (p.Met667Val) c.1993A>G (p.Met665Val) c.1852A>G (p.Met618Val) c.1846A>G (p.Met616Val) | gnomAD v4 |
19 | g.8580922T>G | CA403747831 | ADAMTS10 | c.3283A>C (p.Met1095Leu) c.*2160A>C (n.*2160A>C) c.1744A>C (p.Met582Leu) c.2326A>C (p.Met776Leu) c.3430A>C (p.Met1144Leu) c.3106A>C (p.Met1036Leu) c.1999A>C (p.Met667Leu) c.1993A>C (p.Met665Leu) c.1852A>C (p.Met618Leu) c.1846A>C (p.Met616Leu) | |
19 | g.8580922T= | CA2321494716 | ADAMTS10 | c.3283A= (p.Met1095=) c.*2160A= (n.*2160A=) c.1744A= (p.Met582=) c.2326A= (p.Met776=) c.3430A= (p.Met1144=) c.3106A= (p.Met1036=) c.1999A= (p.Met667=) c.1993A= (p.Met665=) c.1852A= (p.Met618=) c.1846A= (p.Met616=) | |
19 | g.8580923del | CA2580097152 | ADAMTS10 | c.3282del (p.Met1095CysfsTer?) c.*2159del (n.*2159del) c.1743del (p.Met582CysfsTer?) c.2325del (p.Met776CysfsTer?) c.3429del (p.Met1144CysfsTer?) c.3105del (p.Met1036CysfsTer?) c.1998del (p.Met667CysfsTer?) c.1992del (p.Met665CysfsTer?) c.1851del (p.Met618CysfsTer?) c.1845del (p.Met616CysfsTer?) | ClinVar |
19 | g.8580923C>A | CA403747834 | ADAMTS10 | c.3282G>T (p.Gln1094His) c.*2159G>T (n.*2159G>T) c.1743G>T (p.Gln581His) c.2325G>T (p.Gln775His) c.3429G>T (p.Gln1143His) c.3105G>T (p.Gln1035His) c.1998G>T (p.Gln666His) c.1992G>T (p.Gln664His) c.1851G>T (p.Gln617His) c.1845G>T (p.Gln615His) | |
19 | g.8580923C>G | CA403747833 | ADAMTS10 | c.3282G>C (p.Gln1094His) c.*2159G>C (n.*2159G>C) c.1743G>C (p.Gln581His) c.2325G>C (p.Gln775His) c.3429G>C (p.Gln1143His) c.3105G>C (p.Gln1035His) c.1998G>C (p.Gln666His) c.1992G>C (p.Gln664His) c.1851G>C (p.Gln617His) c.1845G>C (p.Gln615His) | ClinVar gnomAD v4 |
19 | g.8580923C>T | CA505262971 | ADAMTS10 | c.3282G>A (p.Gln1094=) c.*2159G>A (n.*2159G>A) c.1743G>A (p.Gln581=) c.2325G>A (p.Gln775=) c.3429G>A (p.Gln1143=) c.3105G>A (p.Gln1035=) c.1998G>A (p.Gln666=) c.1992G>A (p.Gln664=) c.1851G>A (p.Gln617=) c.1845G>A (p.Gln615=) | |
19 | g.8580924T>A | CA403747837 | ADAMTS10 | c.3281A>T (p.Gln1094Leu) c.*2158A>T (n.*2158A>T) c.1742A>T (p.Gln581Leu) c.2324A>T (p.Gln775Leu) c.3428A>T (p.Gln1143Leu) c.3104A>T (p.Gln1035Leu) c.1997A>T (p.Gln666Leu) c.1991A>T (p.Gln664Leu) c.1850A>T (p.Gln617Leu) c.1844A>T (p.Gln615Leu) | |
19 | g.8580924T>C | CA403747835 | ADAMTS10 | c.3281A>G (p.Gln1094Arg) c.*2158A>G (n.*2158A>G) c.1742A>G (p.Gln581Arg) c.2324A>G (p.Gln775Arg) c.3428A>G (p.Gln1143Arg) c.3104A>G (p.Gln1035Arg) c.1997A>G (p.Gln666Arg) c.1991A>G (p.Gln664Arg) c.1850A>G (p.Gln617Arg) c.1844A>G (p.Gln615Arg) | gnomAD v4 |
19 | g.8580924T>G | CA403747836 | ADAMTS10 | c.3281A>C (p.Gln1094Pro) c.*2158A>C (n.*2158A>C) c.1742A>C (p.Gln581Pro) c.2324A>C (p.Gln775Pro) c.3428A>C (p.Gln1143Pro) c.3104A>C (p.Gln1035Pro) c.1997A>C (p.Gln666Pro) c.1991A>C (p.Gln664Pro) c.1850A>C (p.Gln617Pro) c.1844A>C (p.Gln615Pro) | |
19 | g.8580925G>A | CA403747838 | ADAMTS10 | c.3280C>T (p.Gln1094Ter) c.*2157C>T (n.*2157C>T) c.1741C>T (p.Gln581Ter) c.2323C>T (p.Gln775Ter) c.3427C>T (p.Gln1143Ter) c.3103C>T (p.Gln1035Ter) c.1996C>T (p.Gln666Ter) c.1990C>T (p.Gln664Ter) c.1849C>T (p.Gln617Ter) c.1843C>T (p.Gln615Ter) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.8580925G>C | CA403747839 | ADAMTS10 | c.3280C>G (p.Gln1094Glu) c.*2157C>G (n.*2157C>G) c.1741C>G (p.Gln581Glu) c.2323C>G (p.Gln775Glu) c.3427C>G (p.Gln1143Glu) c.3103C>G (p.Gln1035Glu) c.1996C>G (p.Gln666Glu) c.1990C>G (p.Gln664Glu) c.1849C>G (p.Gln617Glu) c.1843C>G (p.Gln615Glu) | |
19 | g.8580925G= | CA2321494717 | ADAMTS10 | c.3280C= (p.Gln1094=) c.*2157C= (n.*2157C=) c.1741C= (p.Gln581=) c.2323C= (p.Gln775=) c.3427C= (p.Gln1143=) c.3103C= (p.Gln1035=) c.1996C= (p.Gln666=) c.1990C= (p.Gln664=) c.1849C= (p.Gln617=) c.1843C= (p.Gln615=) | |
19 | g.8580925G>T | CA403747840 | ADAMTS10 | c.3280C>A (p.Gln1094Lys) c.*2157C>A (n.*2157C>A) c.1741C>A (p.Gln581Lys) c.2323C>A (p.Gln775Lys) c.3427C>A (p.Gln1143Lys) c.3103C>A (p.Gln1035Lys) c.1996C>A (p.Gln666Lys) c.1990C>A (p.Gln664Lys) c.1849C>A (p.Gln617Lys) c.1843C>A (p.Gln615Lys) | |
19 | g.8580926G>A | CA505262983 | ADAMTS10 | c.3279C>T (p.Arg1093=) c.*2156C>T (n.*2156C>T) c.1740C>T (p.Arg580=) c.2322C>T (p.Arg774=) c.3426C>T (p.Arg1142=) c.3102C>T (p.Arg1034=) c.1995C>T (p.Arg665=) c.1989C>T (p.Arg663=) c.1848C>T (p.Arg616=) c.1842C>T (p.Arg614=) | |
19 | g.8580926G>C | CA505262985 | ADAMTS10 | c.3279C>G (p.Arg1093=) c.*2156C>G (n.*2156C>G) c.1740C>G (p.Arg580=) c.2322C>G (p.Arg774=) c.3426C>G (p.Arg1142=) c.3102C>G (p.Arg1034=) c.1995C>G (p.Arg665=) c.1989C>G (p.Arg663=) c.1848C>G (p.Arg616=) c.1842C>G (p.Arg614=) | |
19 | g.8580926G>T | CA505262987 | ADAMTS10 | c.3279C>A (p.Arg1093=) c.*2156C>A (n.*2156C>A) c.1740C>A (p.Arg580=) c.2322C>A (p.Arg774=) c.3426C>A (p.Arg1142=) c.3102C>A (p.Arg1034=) c.1995C>A (p.Arg665=) c.1989C>A (p.Arg663=) c.1848C>A (p.Arg616=) c.1842C>A (p.Arg614=) | gnomAD v4 |
19 | g.8580927C>A | CA403747841 | ADAMTS10 | c.3278G>T (p.Arg1093Leu) c.*2155G>T (n.*2155G>T) c.1739G>T (p.Arg580Leu) c.2321G>T (p.Arg774Leu) c.3425G>T (p.Arg1142Leu) c.3101G>T (p.Arg1034Leu) c.1994G>T (p.Arg665Leu) c.1988G>T (p.Arg663Leu) c.1847G>T (p.Arg616Leu) c.1841G>T (p.Arg614Leu) | gnomAD v4 |
19 | g.8580927C= | CA2321494718 | ADAMTS10 | c.3278G= (p.Arg1093=) c.*2155G= (n.*2155G=) c.1739G= (p.Arg580=) c.2321G= (p.Arg774=) c.3425G= (p.Arg1142=) c.3101G= (p.Arg1034=) c.1994G= (p.Arg665=) c.1988G= (p.Arg663=) c.1847G= (p.Arg616=) c.1841G= (p.Arg614=) | |
19 | g.8580927C>G | CA403747842 | ADAMTS10 | c.3278G>C (p.Arg1093Pro) c.*2155G>C (n.*2155G>C) c.1739G>C (p.Arg580Pro) c.2321G>C (p.Arg774Pro) c.3425G>C (p.Arg1142Pro) c.3101G>C (p.Arg1034Pro) c.1994G>C (p.Arg665Pro) c.1988G>C (p.Arg663Pro) c.1847G>C (p.Arg616Pro) c.1841G>C (p.Arg614Pro) | |
19 | g.8580927C>T | CA9159947 | ADAMTS10 | c.3278G>A (p.Arg1093His) c.*2155G>A (n.*2155G>A) c.1739G>A (p.Arg580His) c.2321G>A (p.Arg774His) c.3425G>A (p.Arg1142His) c.3101G>A (p.Arg1034His) c.1994G>A (p.Arg665His) c.1988G>A (p.Arg663His) c.1847G>A (p.Arg616His) c.1841G>A (p.Arg614His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.8580928G>A | CA403747843 | ADAMTS10 | c.3277C>T (p.Arg1093Cys) c.*2154C>T (n.*2154C>T) c.1738C>T (p.Arg580Cys) c.2320C>T (p.Arg774Cys) c.3424C>T (p.Arg1142Cys) c.3100C>T (p.Arg1034Cys) c.1993C>T (p.Arg665Cys) c.1987C>T (p.Arg663Cys) c.1846C>T (p.Arg616Cys) c.1840C>T (p.Arg614Cys) | |
19 | g.8580928G>C | CA403747844 | ADAMTS10 | c.3277C>G (p.Arg1093Gly) c.*2154C>G (n.*2154C>G) c.1738C>G (p.Arg580Gly) c.2320C>G (p.Arg774Gly) c.3424C>G (p.Arg1142Gly) c.3100C>G (p.Arg1034Gly) c.1993C>G (p.Arg665Gly) c.1987C>G (p.Arg663Gly) c.1846C>G (p.Arg616Gly) c.1840C>G (p.Arg614Gly) | |
19 | g.8580928G= | CA2321494719 | ADAMTS10 | c.3277C= (p.Arg1093=) c.*2154C= (n.*2154C=) c.1738C= (p.Arg580=) c.2320C= (p.Arg774=) c.3424C= (p.Arg1142=) c.3100C= (p.Arg1034=) c.1993C= (p.Arg665=) c.1987C= (p.Arg663=) c.1846C= (p.Arg616=) c.1840C= (p.Arg614=) | |
19 | g.8580928G>T | CA9159948 | ADAMTS10 | c.3277C>A (p.Arg1093Ser) c.*2154C>A (n.*2154C>A) c.1738C>A (p.Arg580Ser) c.2320C>A (p.Arg774Ser) c.3424C>A (p.Arg1142Ser) c.3100C>A (p.Arg1034Ser) c.1993C>A (p.Arg665Ser) c.1987C>A (p.Arg663Ser) c.1846C>A (p.Arg616Ser) c.1840C>A (p.Arg614Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580929G>A | CA505263003 | ADAMTS10 | c.3276C>T (p.Phe1092=) c.*2153C>T (n.*2153C>T) c.1737C>T (p.Phe579=) c.2319C>T (p.Phe773=) c.3423C>T (p.Phe1141=) c.3099C>T (p.Phe1033=) c.1992C>T (p.Phe664=) c.1986C>T (p.Phe662=) c.1845C>T (p.Phe615=) c.1839C>T (p.Phe613=) | COSMIC |
19 | g.8580929G>C | CA403747845 | ADAMTS10 | c.3276C>G (p.Phe1092Leu) c.*2153C>G (n.*2153C>G) c.1737C>G (p.Phe579Leu) c.2319C>G (p.Phe773Leu) c.3423C>G (p.Phe1141Leu) c.3099C>G (p.Phe1033Leu) c.1992C>G (p.Phe664Leu) c.1986C>G (p.Phe662Leu) c.1845C>G (p.Phe615Leu) c.1839C>G (p.Phe613Leu) | |
19 | g.8580929G>T | CA403747846 | ADAMTS10 | c.3276C>A (p.Phe1092Leu) c.*2153C>A (n.*2153C>A) c.1737C>A (p.Phe579Leu) c.2319C>A (p.Phe773Leu) c.3423C>A (p.Phe1141Leu) c.3099C>A (p.Phe1033Leu) c.1992C>A (p.Phe664Leu) c.1986C>A (p.Phe662Leu) c.1845C>A (p.Phe615Leu) c.1839C>A (p.Phe613Leu) | |
19 | g.8580930A>C | CA403747847 | ADAMTS10 | c.3275T>G (p.Phe1092Cys) c.*2152T>G (n.*2152T>G) c.1736T>G (p.Phe579Cys) c.2318T>G (p.Phe773Cys) c.3422T>G (p.Phe1141Cys) c.3098T>G (p.Phe1033Cys) c.1991T>G (p.Phe664Cys) c.1985T>G (p.Phe662Cys) c.1844T>G (p.Phe615Cys) c.1838T>G (p.Phe613Cys) | |
19 | g.8580930A>G | CA403747849 | ADAMTS10 | c.3275T>C (p.Phe1092Ser) c.*2152T>C (n.*2152T>C) c.1736T>C (p.Phe579Ser) c.2318T>C (p.Phe773Ser) c.3422T>C (p.Phe1141Ser) c.3098T>C (p.Phe1033Ser) c.1991T>C (p.Phe664Ser) c.1985T>C (p.Phe662Ser) c.1844T>C (p.Phe615Ser) c.1838T>C (p.Phe613Ser) | |
19 | g.8580930A>T | CA403747848 | ADAMTS10 | c.3275T>A (p.Phe1092Tyr) c.*2152T>A (n.*2152T>A) c.1736T>A (p.Phe579Tyr) c.2318T>A (p.Phe773Tyr) c.3422T>A (p.Phe1141Tyr) c.3098T>A (p.Phe1033Tyr) c.1991T>A (p.Phe664Tyr) c.1985T>A (p.Phe662Tyr) c.1844T>A (p.Phe615Tyr) c.1838T>A (p.Phe613Tyr) | gnomAD v4 |
19 | g.8580931A>C | CA403747850 | ADAMTS10 | c.3274T>G (p.Phe1092Val) c.*2151T>G (n.*2151T>G) c.1735T>G (p.Phe579Val) c.2317T>G (p.Phe773Val) c.3421T>G (p.Phe1141Val) c.3097T>G (p.Phe1033Val) c.1990T>G (p.Phe664Val) c.1984T>G (p.Phe662Val) c.1843T>G (p.Phe615Val) c.1837T>G (p.Phe613Val) | |
19 | g.8580931A>G | CA403747851 | ADAMTS10 | c.3274T>C (p.Phe1092Leu) c.*2151T>C (n.*2151T>C) c.1735T>C (p.Phe579Leu) c.2317T>C (p.Phe773Leu) c.3421T>C (p.Phe1141Leu) c.3097T>C (p.Phe1033Leu) c.1990T>C (p.Phe664Leu) c.1984T>C (p.Phe662Leu) c.1843T>C (p.Phe615Leu) c.1837T>C (p.Phe613Leu) | |
19 | g.8580931A>T | CA403747852 | ADAMTS10 | c.3274T>A (p.Phe1092Ile) c.*2151T>A (n.*2151T>A) c.1735T>A (p.Phe579Ile) c.2317T>A (p.Phe773Ile) c.3421T>A (p.Phe1141Ile) c.3097T>A (p.Phe1033Ile) c.1990T>A (p.Phe664Ile) c.1984T>A (p.Phe662Ile) c.1843T>A (p.Phe615Ile) c.1837T>A (p.Phe613Ile) | |
19 | g.8580932G>A | CA505263021 | ADAMTS10 | c.3273C>T (p.Tyr1091=) c.*2150C>T (n.*2150C>T) c.1734C>T (p.Tyr578=) c.2316C>T (p.Tyr772=) c.3420C>T (p.Tyr1140=) c.3096C>T (p.Tyr1032=) c.1989C>T (p.Tyr663=) c.1983C>T (p.Tyr661=) c.1842C>T (p.Tyr614=) c.1836C>T (p.Tyr612=) | |
19 | g.8580932G>C | CA403747853 | ADAMTS10 | c.3273C>G (p.Tyr1091Ter) c.*2150C>G (n.*2150C>G) c.1734C>G (p.Tyr578Ter) c.2316C>G (p.Tyr772Ter) c.3420C>G (p.Tyr1140Ter) c.3096C>G (p.Tyr1032Ter) c.1989C>G (p.Tyr663Ter) c.1983C>G (p.Tyr661Ter) c.1842C>G (p.Tyr614Ter) c.1836C>G (p.Tyr612Ter) | |
19 | g.8580932G>T | CA403747854 | ADAMTS10 | c.3273C>A (p.Tyr1091Ter) c.*2150C>A (n.*2150C>A) c.1734C>A (p.Tyr578Ter) c.2316C>A (p.Tyr772Ter) c.3420C>A (p.Tyr1140Ter) c.3096C>A (p.Tyr1032Ter) c.1989C>A (p.Tyr663Ter) c.1983C>A (p.Tyr661Ter) c.1842C>A (p.Tyr614Ter) c.1836C>A (p.Tyr612Ter) | gnomAD v4 |
19 | g.8580933T>A | CA403747855 | ADAMTS10 | c.3272A>T (p.Tyr1091Phe) c.*2149A>T (n.*2149A>T) c.1733A>T (p.Tyr578Phe) c.2315A>T (p.Tyr772Phe) c.3419A>T (p.Tyr1140Phe) c.3095A>T (p.Tyr1032Phe) c.1988A>T (p.Tyr663Phe) c.1982A>T (p.Tyr661Phe) c.1841A>T (p.Tyr614Phe) c.1835A>T (p.Tyr612Phe) | |
19 | g.8580933T>C | CA403747856 | ADAMTS10 | c.3272A>G (p.Tyr1091Cys) c.*2149A>G (n.*2149A>G) c.1733A>G (p.Tyr578Cys) c.2315A>G (p.Tyr772Cys) c.3419A>G (p.Tyr1140Cys) c.3095A>G (p.Tyr1032Cys) c.1988A>G (p.Tyr663Cys) c.1982A>G (p.Tyr661Cys) c.1841A>G (p.Tyr614Cys) c.1835A>G (p.Tyr612Cys) | |
19 | g.8580933T>G | CA403747857 | ADAMTS10 | c.3272A>C (p.Tyr1091Ser) c.*2149A>C (n.*2149A>C) c.1733A>C (p.Tyr578Ser) c.2315A>C (p.Tyr772Ser) c.3419A>C (p.Tyr1140Ser) c.3095A>C (p.Tyr1032Ser) c.1988A>C (p.Tyr663Ser) c.1982A>C (p.Tyr661Ser) c.1841A>C (p.Tyr614Ser) c.1835A>C (p.Tyr612Ser) | gnomAD v4 |
19 | g.8580934A>C | CA403747858 | ADAMTS10 | c.3271T>G (p.Tyr1091Asp) c.*2148T>G (n.*2148T>G) c.1732T>G (p.Tyr578Asp) c.2314T>G (p.Tyr772Asp) c.3418T>G (p.Tyr1140Asp) c.3094T>G (p.Tyr1032Asp) c.1987T>G (p.Tyr663Asp) c.1981T>G (p.Tyr661Asp) c.1840T>G (p.Tyr614Asp) c.1834T>G (p.Tyr612Asp) | |
19 | g.8580934A>G | CA403747859 | ADAMTS10 | c.3271T>C (p.Tyr1091His) c.*2148T>C (n.*2148T>C) c.1732T>C (p.Tyr578His) c.2314T>C (p.Tyr772His) c.3418T>C (p.Tyr1140His) c.3094T>C (p.Tyr1032His) c.1987T>C (p.Tyr663His) c.1981T>C (p.Tyr661His) c.1840T>C (p.Tyr614His) c.1834T>C (p.Tyr612His) | |
19 | g.8580934A>T | CA403747860 | ADAMTS10 | c.3271T>A (p.Tyr1091Asn) c.*2148T>A (n.*2148T>A) c.1732T>A (p.Tyr578Asn) c.2314T>A (p.Tyr772Asn) c.3418T>A (p.Tyr1140Asn) c.3094T>A (p.Tyr1032Asn) c.1987T>A (p.Tyr663Asn) c.1981T>A (p.Tyr661Asn) c.1840T>A (p.Tyr614Asn) c.1834T>A (p.Tyr612Asn) | |
19 | g.8580935G>A | CA505263042 | ADAMTS10 | c.3270C>T (p.Ala1090=) c.*2147C>T (n.*2147C>T) c.1731C>T (p.Ala577=) c.2313C>T (p.Ala771=) c.3417C>T (p.Ala1139=) c.3093C>T (p.Ala1031=) c.1986C>T (p.Ala662=) c.1980C>T (p.Ala660=) c.1839C>T (p.Ala613=) c.1833C>T (p.Ala611=) | |
19 | g.8580935G>C | CA9159949 | ADAMTS10 | c.3270C>G (p.Ala1090=) c.*2147C>G (n.*2147C>G) c.1731C>G (p.Ala577=) c.2313C>G (p.Ala771=) c.3417C>G (p.Ala1139=) c.3093C>G (p.Ala1031=) c.1986C>G (p.Ala662=) c.1980C>G (p.Ala660=) c.1839C>G (p.Ala613=) c.1833C>G (p.Ala611=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580935G= | CA2321494720 | ADAMTS10 | c.3270C= (p.Ala1090=) c.*2147C= (n.*2147C=) c.1731C= (p.Ala577=) c.2313C= (p.Ala771=) c.3417C= (p.Ala1139=) c.3093C= (p.Ala1031=) c.1986C= (p.Ala662=) c.1980C= (p.Ala660=) c.1839C= (p.Ala613=) c.1833C= (p.Ala611=) | |
19 | g.8580935G>T | CA505263046 | ADAMTS10 | c.3270C>A (p.Ala1090=) c.*2147C>A (n.*2147C>A) c.1731C>A (p.Ala577=) c.2313C>A (p.Ala771=) c.3417C>A (p.Ala1139=) c.3093C>A (p.Ala1031=) c.1986C>A (p.Ala662=) c.1980C>A (p.Ala660=) c.1839C>A (p.Ala613=) c.1833C>A (p.Ala611=) | |
19 | g.8580936G>A | CA403747864 | ADAMTS10 | c.3269C>T (p.Ala1090Val) c.*2146C>T (n.*2146C>T) c.1730C>T (p.Ala577Val) c.2312C>T (p.Ala771Val) c.3416C>T (p.Ala1139Val) c.3092C>T (p.Ala1031Val) c.1985C>T (p.Ala662Val) c.1979C>T (p.Ala660Val) c.1838C>T (p.Ala613Val) c.1832C>T (p.Ala611Val) | |
19 | g.8580936G>C | CA403747861 | ADAMTS10 | c.3269C>G (p.Ala1090Gly) c.*2146C>G (n.*2146C>G) c.1730C>G (p.Ala577Gly) c.2312C>G (p.Ala771Gly) c.3416C>G (p.Ala1139Gly) c.3092C>G (p.Ala1031Gly) c.1985C>G (p.Ala662Gly) c.1979C>G (p.Ala660Gly) c.1838C>G (p.Ala613Gly) c.1832C>G (p.Ala611Gly) | |
19 | g.8580936G>T | CA403747862 | ADAMTS10 | c.3269C>A (p.Ala1090Asp) c.*2146C>A (n.*2146C>A) c.1730C>A (p.Ala577Asp) c.2312C>A (p.Ala771Asp) c.3416C>A (p.Ala1139Asp) c.3092C>A (p.Ala1031Asp) c.1985C>A (p.Ala662Asp) c.1979C>A (p.Ala660Asp) c.1838C>A (p.Ala613Asp) c.1832C>A (p.Ala611Asp) | gnomAD v4 COSMIC |
19 | g.8580937C>A | CA403747866 | ADAMTS10 | c.3268G>T (p.Ala1090Ser) c.*2145G>T (n.*2145G>T) c.1729G>T (p.Ala577Ser) c.2311G>T (p.Ala771Ser) c.3415G>T (p.Ala1139Ser) c.3091G>T (p.Ala1031Ser) c.1984G>T (p.Ala662Ser) c.1978G>T (p.Ala660Ser) c.1837G>T (p.Ala613Ser) c.1831G>T (p.Ala611Ser) | |
19 | g.8580937C= | CA2321494721 | ADAMTS10 | c.3268G= (p.Ala1090=) c.*2145G= (n.*2145G=) c.1729G= (p.Ala577=) c.2311G= (p.Ala771=) c.3415G= (p.Ala1139=) c.3091G= (p.Ala1031=) c.1984G= (p.Ala662=) c.1978G= (p.Ala660=) c.1837G= (p.Ala613=) c.1831G= (p.Ala611=) | |
19 | g.8580937C>G | CA403747867 | ADAMTS10 | c.3268G>C (p.Ala1090Pro) c.*2145G>C (n.*2145G>C) c.1729G>C (p.Ala577Pro) c.2311G>C (p.Ala771Pro) c.3415G>C (p.Ala1139Pro) c.3091G>C (p.Ala1031Pro) c.1984G>C (p.Ala662Pro) c.1978G>C (p.Ala660Pro) c.1837G>C (p.Ala613Pro) c.1831G>C (p.Ala611Pro) | |
19 | g.8580937C>T | CA9159950 | ADAMTS10 | c.3268G>A (p.Ala1090Thr) c.*2145G>A (n.*2145G>A) c.1729G>A (p.Ala577Thr) c.2311G>A (p.Ala771Thr) c.3415G>A (p.Ala1139Thr) c.3091G>A (p.Ala1031Thr) c.1984G>A (p.Ala662Thr) c.1978G>A (p.Ala660Thr) c.1837G>A (p.Ala613Thr) c.1831G>A (p.Ala611Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.8580938T>A | CA505263064 | ADAMTS10 | c.3267A>T (p.Arg1089=) c.*2144A>T (n.*2144A>T) c.1728A>T (p.Arg576=) c.2310A>T (p.Arg770=) c.3414A>T (p.Arg1138=) c.3090A>T (p.Arg1030=) c.1983A>T (p.Arg661=) c.1977A>T (p.Arg659=) c.1836A>T (p.Arg612=) c.1830A>T (p.Arg610=) | gnomAD v4 |
19 | g.8580938T>C | CA505263066 | ADAMTS10 | c.3267A>G (p.Arg1089=) c.*2144A>G (n.*2144A>G) c.1728A>G (p.Arg576=) c.2310A>G (p.Arg770=) c.3414A>G (p.Arg1138=) c.3090A>G (p.Arg1030=) c.1983A>G (p.Arg661=) c.1977A>G (p.Arg659=) c.1836A>G (p.Arg612=) c.1830A>G (p.Arg610=) | dbSNP gnomAD v4 |
19 | g.8580938T>G | CA505263067 | ADAMTS10 | c.3267A>C (p.Arg1089=) c.*2144A>C (n.*2144A>C) c.1728A>C (p.Arg576=) c.2310A>C (p.Arg770=) c.3414A>C (p.Arg1138=) c.3090A>C (p.Arg1030=) c.1983A>C (p.Arg661=) c.1977A>C (p.Arg659=) c.1836A>C (p.Arg612=) c.1830A>C (p.Arg610=) | |
19 | g.8580938T= | CA2321494722 | ADAMTS10 | c.3267A= (p.Arg1089=) c.*2144A= (n.*2144A=) c.1728A= (p.Arg576=) c.2310A= (p.Arg770=) c.3414A= (p.Arg1138=) c.3090A= (p.Arg1030=) c.1983A= (p.Arg661=) c.1977A= (p.Arg659=) c.1836A= (p.Arg612=) c.1830A= (p.Arg610=) | |
19 | g.8580939C>A | CA403747868 | ADAMTS10 | c.3266G>T (p.Arg1089Leu) c.*2143G>T (n.*2143G>T) c.1727G>T (p.Arg576Leu) c.2309G>T (p.Arg770Leu) c.3413G>T (p.Arg1138Leu) c.3089G>T (p.Arg1030Leu) c.1982G>T (p.Arg661Leu) c.1976G>T (p.Arg659Leu) c.1835G>T (p.Arg612Leu) c.1829G>T (p.Arg610Leu) | |
19 | g.8580939C>G | CA403747869 | ADAMTS10 | c.3266G>C (p.Arg1089Pro) c.*2143G>C (n.*2143G>C) c.1727G>C (p.Arg576Pro) c.2309G>C (p.Arg770Pro) c.3413G>C (p.Arg1138Pro) c.3089G>C (p.Arg1030Pro) c.1982G>C (p.Arg661Pro) c.1976G>C (p.Arg659Pro) c.1835G>C (p.Arg612Pro) c.1829G>C (p.Arg610Pro) | |
19 | g.8580939C>T | CA403747870 | ADAMTS10 | c.3266G>A (p.Arg1089Gln) c.*2143G>A (n.*2143G>A) c.1727G>A (p.Arg576Gln) c.2309G>A (p.Arg770Gln) c.3413G>A (p.Arg1138Gln) c.3089G>A (p.Arg1030Gln) c.1982G>A (p.Arg661Gln) c.1976G>A (p.Arg659Gln) c.1835G>A (p.Arg612Gln) c.1829G>A (p.Arg610Gln) | COSMIC |
19 | g.8580940G>A | CA403747871 | ADAMTS10 | c.3265C>T (p.Arg1089Ter) c.*2142C>T (n.*2142C>T) c.1726C>T (p.Arg576Ter) c.2308C>T (p.Arg770Ter) c.3412C>T (p.Arg1138Ter) c.3088C>T (p.Arg1030Ter) c.1981C>T (p.Arg661Ter) c.1975C>T (p.Arg659Ter) c.1834C>T (p.Arg612Ter) c.1828C>T (p.Arg610Ter) | |
19 | g.8580940G>C | CA403747872 | ADAMTS10 | c.3265C>G (p.Arg1089Gly) c.*2142C>G (n.*2142C>G) c.1726C>G (p.Arg576Gly) c.2308C>G (p.Arg770Gly) c.3412C>G (p.Arg1138Gly) c.3088C>G (p.Arg1030Gly) c.1981C>G (p.Arg661Gly) c.1975C>G (p.Arg659Gly) c.1834C>G (p.Arg612Gly) c.1828C>G (p.Arg610Gly) | |
19 | g.8580940G>T | CA505263085 | ADAMTS10 | c.3265C>A (p.Arg1089=) c.*2142C>A (n.*2142C>A) c.1726C>A (p.Arg576=) c.2308C>A (p.Arg770=) c.3412C>A (p.Arg1138=) c.3088C>A (p.Arg1030=) c.1981C>A (p.Arg661=) c.1975C>A (p.Arg659=) c.1834C>A (p.Arg612=) c.1828C>A (p.Arg610=) | |
19 | g.8580941G>A | CA505263089 | ADAMTS10 | c.3264C>T (p.Ser1088=) c.*2141C>T (n.*2141C>T) c.1725C>T (p.Ser575=) c.2307C>T (p.Ser769=) c.3411C>T (p.Ser1137=) c.3087C>T (p.Ser1029=) c.1980C>T (p.Ser660=) c.1974C>T (p.Ser658=) c.1833C>T (p.Ser611=) c.1827C>T (p.Ser609=) | |
19 | g.8580941G>C | CA403747873 | ADAMTS10 | c.3264C>G (p.Ser1088Arg) c.*2141C>G (n.*2141C>G) c.1725C>G (p.Ser575Arg) c.2307C>G (p.Ser769Arg) c.3411C>G (p.Ser1137Arg) c.3087C>G (p.Ser1029Arg) c.1980C>G (p.Ser660Arg) c.1974C>G (p.Ser658Arg) c.1833C>G (p.Ser611Arg) c.1827C>G (p.Ser609Arg) | |
19 | g.8580941G= | CA2321494723 | ADAMTS10 | c.3264C= (p.Ser1088=) c.*2141C= (n.*2141C=) c.1725C= (p.Ser575=) c.2307C= (p.Ser769=) c.3411C= (p.Ser1137=) c.3087C= (p.Ser1029=) c.1980C= (p.Ser660=) c.1974C= (p.Ser658=) c.1833C= (p.Ser611=) c.1827C= (p.Ser609=) | |
19 | g.8580941G>T | CA403747874 | ADAMTS10 | c.3264C>A (p.Ser1088Arg) c.*2141C>A (n.*2141C>A) c.1725C>A (p.Ser575Arg) c.2307C>A (p.Ser769Arg) c.3411C>A (p.Ser1137Arg) c.3087C>A (p.Ser1029Arg) c.1980C>A (p.Ser660Arg) c.1974C>A (p.Ser658Arg) c.1833C>A (p.Ser611Arg) c.1827C>A (p.Ser609Arg) | ClinVar dbSNP gnomAD v4 |
19 | g.8580942C>A | CA403747877 | ADAMTS10 | c.3263G>T (p.Ser1088Ile) c.*2140G>T (n.*2140G>T) c.1724G>T (p.Ser575Ile) c.2306G>T (p.Ser769Ile) c.3410G>T (p.Ser1137Ile) c.3086G>T (p.Ser1029Ile) c.1979G>T (p.Ser660Ile) c.1973G>T (p.Ser658Ile) c.1832G>T (p.Ser611Ile) c.1826G>T (p.Ser609Ile) | |
19 | g.8580942C= | CA2321494724 | ADAMTS10 | c.3263G= (p.Ser1088=) c.*2140G= (n.*2140G=) c.1724G= (p.Ser575=) c.2306G= (p.Ser769=) c.3410G= (p.Ser1137=) c.3086G= (p.Ser1029=) c.1979G= (p.Ser660=) c.1973G= (p.Ser658=) c.1832G= (p.Ser611=) c.1826G= (p.Ser609=) | |
19 | g.8580942C>G | CA403747876 | ADAMTS10 | c.3263G>C (p.Ser1088Thr) c.*2140G>C (n.*2140G>C) c.1724G>C (p.Ser575Thr) c.2306G>C (p.Ser769Thr) c.3410G>C (p.Ser1137Thr) c.3086G>C (p.Ser1029Thr) c.1979G>C (p.Ser660Thr) c.1973G>C (p.Ser658Thr) c.1832G>C (p.Ser611Thr) c.1826G>C (p.Ser609Thr) | |
19 | g.8580942C>T | CA403747875 | ADAMTS10 | c.3263G>A (p.Ser1088Asn) c.*2140G>A (n.*2140G>A) c.1724G>A (p.Ser575Asn) c.2306G>A (p.Ser769Asn) c.3410G>A (p.Ser1137Asn) c.3086G>A (p.Ser1029Asn) c.1979G>A (p.Ser660Asn) c.1973G>A (p.Ser658Asn) c.1832G>A (p.Ser611Asn) c.1826G>A (p.Ser609Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580942dup | CA2588116124 | ADAMTS10 | c.3263dup (p.Ser1088ArgfsTer?) c.*2140dup (n.*2140dup) c.1724dup (p.Ser575ArgfsTer?) c.2306dup (p.Ser769ArgfsTer?) c.3410dup (p.Ser1137ArgfsTer?) c.3086dup (p.Ser1029ArgfsTer?) c.1979dup (p.Ser660ArgfsTer?) c.1973dup (p.Ser658ArgfsTer?) c.1832dup (p.Ser611ArgfsTer?) c.1826dup (p.Ser609ArgfsTer?) | gnomAD v4 |
19 | g.8580943T>A | CA403747878 | ADAMTS10 | c.3262A>T (p.Ser1088Cys) c.*2139A>T (n.*2139A>T) c.1723A>T (p.Ser575Cys) c.2305A>T (p.Ser769Cys) c.3409A>T (p.Ser1137Cys) c.3085A>T (p.Ser1029Cys) c.1978A>T (p.Ser660Cys) c.1972A>T (p.Ser658Cys) c.1831A>T (p.Ser611Cys) c.1825A>T (p.Ser609Cys) | |
19 | g.8580943T>C | CA9159951 | ADAMTS10 | c.3262A>G (p.Ser1088Gly) c.*2139A>G (n.*2139A>G) c.1723A>G (p.Ser575Gly) c.2305A>G (p.Ser769Gly) c.3409A>G (p.Ser1137Gly) c.3085A>G (p.Ser1029Gly) c.1978A>G (p.Ser660Gly) c.1972A>G (p.Ser658Gly) c.1831A>G (p.Ser611Gly) c.1825A>G (p.Ser609Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580943T>G | CA403747879 | ADAMTS10 | c.3262A>C (p.Ser1088Arg) c.*2139A>C (n.*2139A>C) c.1723A>C (p.Ser575Arg) c.2305A>C (p.Ser769Arg) c.3409A>C (p.Ser1137Arg) c.3085A>C (p.Ser1029Arg) c.1978A>C (p.Ser660Arg) c.1972A>C (p.Ser658Arg) c.1831A>C (p.Ser611Arg) c.1825A>C (p.Ser609Arg) | |
19 | g.8580943T= | CA2321494725 | ADAMTS10 | c.3262A= (p.Ser1088=) c.*2139A= (n.*2139A=) c.1723A= (p.Ser575=) c.2305A= (p.Ser769=) c.3409A= (p.Ser1137=) c.3085A= (p.Ser1029=) c.1978A= (p.Ser660=) c.1972A= (p.Ser658=) c.1831A= (p.Ser611=) c.1825A= (p.Ser609=) | |
19 | g.8580944G>A | CA505263125 | ADAMTS10 | c.3261C>T (p.Cys1087=) c.*2138C>T (n.*2138C>T) c.1722C>T (p.Cys574=) c.2304C>T (p.Cys768=) c.3408C>T (p.Cys1136=) c.3084C>T (p.Cys1028=) c.1977C>T (p.Cys659=) c.1971C>T (p.Cys657=) c.1830C>T (p.Cys610=) c.1824C>T (p.Cys608=) | gnomAD v4 |
19 | g.8580944G>C | CA403747880 | ADAMTS10 | c.3261C>G (p.Cys1087Trp) c.*2138C>G (n.*2138C>G) c.1722C>G (p.Cys574Trp) c.2304C>G (p.Cys768Trp) c.3408C>G (p.Cys1136Trp) c.3084C>G (p.Cys1028Trp) c.1977C>G (p.Cys659Trp) c.1971C>G (p.Cys657Trp) c.1830C>G (p.Cys610Trp) c.1824C>G (p.Cys608Trp) | |
19 | g.8580944G>T | CA403747881 | ADAMTS10 | c.3261C>A (p.Cys1087Ter) c.*2138C>A (n.*2138C>A) c.1722C>A (p.Cys574Ter) c.2304C>A (p.Cys768Ter) c.3408C>A (p.Cys1136Ter) c.3084C>A (p.Cys1028Ter) c.1977C>A (p.Cys659Ter) c.1971C>A (p.Cys657Ter) c.1830C>A (p.Cys610Ter) c.1824C>A (p.Cys608Ter) | |
19 | g.8580945C>A | CA403747882 | ADAMTS10 | c.3260G>T (p.Cys1087Phe) c.*2137G>T (n.*2137G>T) c.1721G>T (p.Cys574Phe) c.2303G>T (p.Cys768Phe) c.3407G>T (p.Cys1136Phe) c.3083G>T (p.Cys1028Phe) c.1976G>T (p.Cys659Phe) c.1970G>T (p.Cys657Phe) c.1829G>T (p.Cys610Phe) c.1823G>T (p.Cys608Phe) | |
19 | g.8580945C>G | CA403747883 | ADAMTS10 | c.3260G>C (p.Cys1087Ser) c.*2137G>C (n.*2137G>C) c.1721G>C (p.Cys574Ser) c.2303G>C (p.Cys768Ser) c.3407G>C (p.Cys1136Ser) c.3083G>C (p.Cys1028Ser) c.1976G>C (p.Cys659Ser) c.1970G>C (p.Cys657Ser) c.1829G>C (p.Cys610Ser) c.1823G>C (p.Cys608Ser) | |
19 | g.8580945C>T | CA403747884 | ADAMTS10 | c.3260G>A (p.Cys1087Tyr) c.*2137G>A (n.*2137G>A) c.1721G>A (p.Cys574Tyr) c.2303G>A (p.Cys768Tyr) c.3407G>A (p.Cys1136Tyr) c.3083G>A (p.Cys1028Tyr) c.1976G>A (p.Cys659Tyr) c.1970G>A (p.Cys657Tyr) c.1829G>A (p.Cys610Tyr) c.1823G>A (p.Cys608Tyr) | |
19 | g.8580946A>C | CA403747885 | ADAMTS10 | c.3259T>G (p.Cys1087Gly) c.*2136T>G (n.*2136T>G) c.1720T>G (p.Cys574Gly) c.2302T>G (p.Cys768Gly) c.3406T>G (p.Cys1136Gly) c.3082T>G (p.Cys1028Gly) c.1975T>G (p.Cys659Gly) c.1969T>G (p.Cys657Gly) c.1828T>G (p.Cys610Gly) c.1822T>G (p.Cys608Gly) | |
19 | g.8580946A>G | CA403747886 | ADAMTS10 | c.3259T>C (p.Cys1087Arg) c.*2136T>C (n.*2136T>C) c.1720T>C (p.Cys574Arg) c.2302T>C (p.Cys768Arg) c.3406T>C (p.Cys1136Arg) c.3082T>C (p.Cys1028Arg) c.1975T>C (p.Cys659Arg) c.1969T>C (p.Cys657Arg) c.1828T>C (p.Cys610Arg) c.1822T>C (p.Cys608Arg) | |
19 | g.8580946A>T | CA403747888 | ADAMTS10 | c.3259T>A (p.Cys1087Ser) c.*2136T>A (n.*2136T>A) c.1720T>A (p.Cys574Ser) c.2302T>A (p.Cys768Ser) c.3406T>A (p.Cys1136Ser) c.3082T>A (p.Cys1028Ser) c.1975T>A (p.Cys659Ser) c.1969T>A (p.Cys657Ser) c.1828T>A (p.Cys610Ser) c.1822T>A (p.Cys608Ser) | |
19 | g.8580947G>A | CA505263144 | ADAMTS10 | c.3258C>T (p.Phe1086=) c.*2135C>T (n.*2135C>T) c.1719C>T (p.Phe573=) c.2301C>T (p.Phe767=) c.3405C>T (p.Phe1135=) c.3081C>T (p.Phe1027=) c.1974C>T (p.Phe658=) c.1968C>T (p.Phe656=) c.1827C>T (p.Phe609=) c.1821C>T (p.Phe607=) | |
19 | g.8580947G>C | CA403747890 | ADAMTS10 | c.3258C>G (p.Phe1086Leu) c.*2135C>G (n.*2135C>G) c.1719C>G (p.Phe573Leu) c.2301C>G (p.Phe767Leu) c.3405C>G (p.Phe1135Leu) c.3081C>G (p.Phe1027Leu) c.1974C>G (p.Phe658Leu) c.1968C>G (p.Phe656Leu) c.1827C>G (p.Phe609Leu) c.1821C>G (p.Phe607Leu) | |
19 | g.8580947G>T | CA403747891 | ADAMTS10 | c.3258C>A (p.Phe1086Leu) c.*2135C>A (n.*2135C>A) c.1719C>A (p.Phe573Leu) c.2301C>A (p.Phe767Leu) c.3405C>A (p.Phe1135Leu) c.3081C>A (p.Phe1027Leu) c.1974C>A (p.Phe658Leu) c.1968C>A (p.Phe656Leu) c.1827C>A (p.Phe609Leu) c.1821C>A (p.Phe607Leu) | |
19 | g.8580948A>C | CA403747893 | ADAMTS10 | c.3257T>G (p.Phe1086Cys) c.*2134T>G (n.*2134T>G) c.1718T>G (p.Phe573Cys) c.2300T>G (p.Phe767Cys) c.3404T>G (p.Phe1135Cys) c.3080T>G (p.Phe1027Cys) c.1973T>G (p.Phe658Cys) c.1967T>G (p.Phe656Cys) c.1826T>G (p.Phe609Cys) c.1820T>G (p.Phe607Cys) | |
19 | g.8580948A>G | CA403747894 | ADAMTS10 | c.3257T>C (p.Phe1086Ser) c.*2134T>C (n.*2134T>C) c.1718T>C (p.Phe573Ser) c.2300T>C (p.Phe767Ser) c.3404T>C (p.Phe1135Ser) c.3080T>C (p.Phe1027Ser) c.1973T>C (p.Phe658Ser) c.1967T>C (p.Phe656Ser) c.1826T>C (p.Phe609Ser) c.1820T>C (p.Phe607Ser) | |
19 | g.8580948A>T | CA403747892 | ADAMTS10 | c.3257T>A (p.Phe1086Tyr) c.*2134T>A (n.*2134T>A) c.1718T>A (p.Phe573Tyr) c.2300T>A (p.Phe767Tyr) c.3404T>A (p.Phe1135Tyr) c.3080T>A (p.Phe1027Tyr) c.1973T>A (p.Phe658Tyr) c.1967T>A (p.Phe656Tyr) c.1826T>A (p.Phe609Tyr) c.1820T>A (p.Phe607Tyr) | |
19 | g.8580949A>C | CA403747895 | ADAMTS10 | c.3256T>G (p.Phe1086Val) c.*2133T>G (n.*2133T>G) c.1717T>G (p.Phe573Val) c.2299T>G (p.Phe767Val) c.3403T>G (p.Phe1135Val) c.3079T>G (p.Phe1027Val) c.1972T>G (p.Phe658Val) c.1966T>G (p.Phe656Val) c.1825T>G (p.Phe609Val) c.1819T>G (p.Phe607Val) | |
19 | g.8580949A>G | CA403747896 | ADAMTS10 | c.3256T>C (p.Phe1086Leu) c.*2133T>C (n.*2133T>C) c.1717T>C (p.Phe573Leu) c.2299T>C (p.Phe767Leu) c.3403T>C (p.Phe1135Leu) c.3079T>C (p.Phe1027Leu) c.1972T>C (p.Phe658Leu) c.1966T>C (p.Phe656Leu) c.1825T>C (p.Phe609Leu) c.1819T>C (p.Phe607Leu) | |
19 | g.8580949A>T | CA403747897 | ADAMTS10 | c.3256T>A (p.Phe1086Ile) c.*2133T>A (n.*2133T>A) c.1717T>A (p.Phe573Ile) c.2299T>A (p.Phe767Ile) c.3403T>A (p.Phe1135Ile) c.3079T>A (p.Phe1027Ile) c.1972T>A (p.Phe658Ile) c.1966T>A (p.Phe656Ile) c.1825T>A (p.Phe609Ile) c.1819T>A (p.Phe607Ile) | |
19 | g.8580950C>A | CA403747898 | ADAMTS10 | c.3255G>T (p.Gln1085His) c.*2132G>T (n.*2132G>T) c.1716G>T (p.Gln572His) c.2298G>T (p.Gln766His) c.3402G>T (p.Gln1134His) c.3078G>T (p.Gln1026His) c.1971G>T (p.Gln657His) c.1965G>T (p.Gln655His) c.1824G>T (p.Gln608His) c.1818G>T (p.Gln606His) | |
19 | g.8580950C>G | CA403747899 | ADAMTS10 | c.3255G>C (p.Gln1085His) c.*2132G>C (n.*2132G>C) c.1716G>C (p.Gln572His) c.2298G>C (p.Gln766His) c.3402G>C (p.Gln1134His) c.3078G>C (p.Gln1026His) c.1971G>C (p.Gln657His) c.1965G>C (p.Gln655His) c.1824G>C (p.Gln608His) c.1818G>C (p.Gln606His) | gnomAD v4 |
19 | g.8580950C>T | CA505263163 | ADAMTS10 | c.3255G>A (p.Gln1085=) c.*2132G>A (n.*2132G>A) c.1716G>A (p.Gln572=) c.2298G>A (p.Gln766=) c.3402G>A (p.Gln1134=) c.3078G>A (p.Gln1026=) c.1971G>A (p.Gln657=) c.1965G>A (p.Gln655=) c.1824G>A (p.Gln608=) c.1818G>A (p.Gln606=) | |
19 | g.8580951T>A | CA403747904 | ADAMTS10 | c.3254A>T (p.Gln1085Leu) c.*2131A>T (n.*2131A>T) c.1715A>T (p.Gln572Leu) c.2297A>T (p.Gln766Leu) c.3401A>T (p.Gln1134Leu) c.3077A>T (p.Gln1026Leu) c.1970A>T (p.Gln657Leu) c.1964A>T (p.Gln655Leu) c.1823A>T (p.Gln608Leu) c.1817A>T (p.Gln606Leu) | |
19 | g.8580951T>C | CA403747902 | ADAMTS10 | c.3254A>G (p.Gln1085Arg) c.*2131A>G (n.*2131A>G) c.1715A>G (p.Gln572Arg) c.2297A>G (p.Gln766Arg) c.3401A>G (p.Gln1134Arg) c.3077A>G (p.Gln1026Arg) c.1970A>G (p.Gln657Arg) c.1964A>G (p.Gln655Arg) c.1823A>G (p.Gln608Arg) c.1817A>G (p.Gln606Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.8580951T>G | CA403747900 | ADAMTS10 | c.3254A>C (p.Gln1085Pro) c.*2131A>C (n.*2131A>C) c.1715A>C (p.Gln572Pro) c.2297A>C (p.Gln766Pro) c.3401A>C (p.Gln1134Pro) c.3077A>C (p.Gln1026Pro) c.1970A>C (p.Gln657Pro) c.1964A>C (p.Gln655Pro) c.1823A>C (p.Gln608Pro) c.1817A>C (p.Gln606Pro) | |
19 | g.8580951T= | CA2321494726 | ADAMTS10 | c.3254A= (p.Gln1085=) c.*2131A= (n.*2131A=) c.1715A= (p.Gln572=) c.2297A= (p.Gln766=) c.3401A= (p.Gln1134=) c.3077A= (p.Gln1026=) c.1970A= (p.Gln657=) c.1964A= (p.Gln655=) c.1823A= (p.Gln608=) c.1817A= (p.Gln606=) | |
19 | g.8580952G>A | CA403747905 | ADAMTS10 | c.3253C>T (p.Gln1085Ter) c.*2130C>T (n.*2130C>T) c.1714C>T (p.Gln572Ter) c.2296C>T (p.Gln766Ter) c.3400C>T (p.Gln1134Ter) c.3076C>T (p.Gln1026Ter) c.1969C>T (p.Gln657Ter) c.1963C>T (p.Gln655Ter) c.1822C>T (p.Gln608Ter) c.1816C>T (p.Gln606Ter) | COSMIC |
19 | g.8580952G>C | CA403747906 | ADAMTS10 | c.3253C>G (p.Gln1085Glu) c.*2130C>G (n.*2130C>G) c.1714C>G (p.Gln572Glu) c.2296C>G (p.Gln766Glu) c.3400C>G (p.Gln1134Glu) c.3076C>G (p.Gln1026Glu) c.1969C>G (p.Gln657Glu) c.1963C>G (p.Gln655Glu) c.1822C>G (p.Gln608Glu) c.1816C>G (p.Gln606Glu) | |
19 | g.8580952G>T | CA403747907 | ADAMTS10 | c.3253C>A (p.Gln1085Lys) c.*2130C>A (n.*2130C>A) c.1714C>A (p.Gln572Lys) c.2296C>A (p.Gln766Lys) c.3400C>A (p.Gln1134Lys) c.3076C>A (p.Gln1026Lys) c.1969C>A (p.Gln657Lys) c.1963C>A (p.Gln655Lys) c.1822C>A (p.Gln608Lys) c.1816C>A (p.Gln606Lys) | |
19 | g.8580953A= | CA2321494727 | ADAMTS10 | c.3252T= (p.Phe1084=) c.*2129T= (n.*2129T=) c.1713T= (p.Phe571=) c.2295T= (p.Phe765=) c.3399T= (p.Phe1133=) c.3075T= (p.Phe1025=) c.1968T= (p.Phe656=) c.1962T= (p.Phe654=) c.1821T= (p.Phe607=) c.1815T= (p.Phe605=) | |
19 | g.8580953A>C | CA403747908 | ADAMTS10 | c.3252T>G (p.Phe1084Leu) c.*2129T>G (n.*2129T>G) c.1713T>G (p.Phe571Leu) c.2295T>G (p.Phe765Leu) c.3399T>G (p.Phe1133Leu) c.3075T>G (p.Phe1025Leu) c.1968T>G (p.Phe656Leu) c.1962T>G (p.Phe654Leu) c.1821T>G (p.Phe607Leu) c.1815T>G (p.Phe605Leu) | |
19 | g.8580953A>G | CA9159952 | ADAMTS10 | c.3252T>C (p.Phe1084=) c.*2129T>C (n.*2129T>C) c.1713T>C (p.Phe571=) c.2295T>C (p.Phe765=) c.3399T>C (p.Phe1133=) c.3075T>C (p.Phe1025=) c.1968T>C (p.Phe656=) c.1962T>C (p.Phe654=) c.1821T>C (p.Phe607=) c.1815T>C (p.Phe605=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.8580953A>T | CA403747909 | ADAMTS10 | c.3252T>A (p.Phe1084Leu) c.*2129T>A (n.*2129T>A) c.1713T>A (p.Phe571Leu) c.2295T>A (p.Phe765Leu) c.3399T>A (p.Phe1133Leu) c.3075T>A (p.Phe1025Leu) c.1968T>A (p.Phe656Leu) c.1962T>A (p.Phe654Leu) c.1821T>A (p.Phe607Leu) c.1815T>A (p.Phe605Leu) | |
19 | g.8580954A>C | CA403747912 | ADAMTS10 | c.3251T>G (p.Phe1084Cys) c.*2128T>G (n.*2128T>G) c.1712T>G (p.Phe571Cys) c.2294T>G (p.Phe765Cys) c.3398T>G (p.Phe1133Cys) c.3074T>G (p.Phe1025Cys) c.1967T>G (p.Phe656Cys) c.1961T>G (p.Phe654Cys) c.1820T>G (p.Phe607Cys) c.1814T>G (p.Phe605Cys) | |
19 | g.8580954A>G | CA403747910 | ADAMTS10 | c.3251T>C (p.Phe1084Ser) c.*2128T>C (n.*2128T>C) c.1712T>C (p.Phe571Ser) c.2294T>C (p.Phe765Ser) c.3398T>C (p.Phe1133Ser) c.3074T>C (p.Phe1025Ser) c.1967T>C (p.Phe656Ser) c.1961T>C (p.Phe654Ser) c.1820T>C (p.Phe607Ser) c.1814T>C (p.Phe605Ser) | |
19 | g.8580954A>T | CA403747911 | ADAMTS10 | c.3251T>A (p.Phe1084Tyr) c.*2128T>A (n.*2128T>A) c.1712T>A (p.Phe571Tyr) c.2294T>A (p.Phe765Tyr) c.3398T>A (p.Phe1133Tyr) c.3074T>A (p.Phe1025Tyr) c.1967T>A (p.Phe656Tyr) c.1961T>A (p.Phe654Tyr) c.1820T>A (p.Phe607Tyr) c.1814T>A (p.Phe605Tyr) | |
19 | g.8580955A>C | CA403747913 | ADAMTS10 | c.3250T>G (p.Phe1084Val) c.*2127T>G (n.*2127T>G) c.1711T>G (p.Phe571Val) c.2293T>G (p.Phe765Val) c.3397T>G (p.Phe1133Val) c.3073T>G (p.Phe1025Val) c.1966T>G (p.Phe656Val) c.1960T>G (p.Phe654Val) c.1819T>G (p.Phe607Val) c.1813T>G (p.Phe605Val) | |
19 | g.8580955A>G | CA403747914 | ADAMTS10 | c.3250T>C (p.Phe1084Leu) c.*2127T>C (n.*2127T>C) c.1711T>C (p.Phe571Leu) c.2293T>C (p.Phe765Leu) c.3397T>C (p.Phe1133Leu) c.3073T>C (p.Phe1025Leu) c.1966T>C (p.Phe656Leu) c.1960T>C (p.Phe654Leu) c.1819T>C (p.Phe607Leu) c.1813T>C (p.Phe605Leu) | |
19 | g.8580955A>T | CA403747915 | ADAMTS10 | c.3250T>A (p.Phe1084Ile) c.*2127T>A (n.*2127T>A) c.1711T>A (p.Phe571Ile) c.2293T>A (p.Phe765Ile) c.3397T>A (p.Phe1133Ile) c.3073T>A (p.Phe1025Ile) c.1966T>A (p.Phe656Ile) c.1960T>A (p.Phe654Ile) c.1819T>A (p.Phe607Ile) c.1813T>A (p.Phe605Ile) | COSMIC |
19 | g.8580956T>A | CA403747916 | ADAMTS10 | c.3249A>T (p.Lys1083Asn) c.*2126A>T (n.*2126A>T) c.1710A>T (p.Lys570Asn) c.2292A>T (p.Lys764Asn) c.3396A>T (p.Lys1132Asn) c.3072A>T (p.Lys1024Asn) c.1965A>T (p.Lys655Asn) c.1959A>T (p.Lys653Asn) c.1818A>T (p.Lys606Asn) c.1812A>T (p.Lys604Asn) | |
19 | g.8580956T>C | CA505263178 | ADAMTS10 | c.3249A>G (p.Lys1083=) c.*2126A>G (n.*2126A>G) c.1710A>G (p.Lys570=) c.2292A>G (p.Lys764=) c.3396A>G (p.Lys1132=) c.3072A>G (p.Lys1024=) c.1965A>G (p.Lys655=) c.1959A>G (p.Lys653=) c.1818A>G (p.Lys606=) c.1812A>G (p.Lys604=) | |
19 | g.8580956T>G | CA403747917 | ADAMTS10 | c.3249A>C (p.Lys1083Asn) c.*2126A>C (n.*2126A>C) c.1710A>C (p.Lys570Asn) c.2292A>C (p.Lys764Asn) c.3396A>C (p.Lys1132Asn) c.3072A>C (p.Lys1024Asn) c.1965A>C (p.Lys655Asn) c.1959A>C (p.Lys653Asn) c.1818A>C (p.Lys606Asn) c.1812A>C (p.Lys604Asn) | |
19 | g.8580956_8580991del | CA2588116125 | ADAMTS10 | c.3214_3249del (p.Val1072_Lys1083del) c.*2091_*2126del (n.*2091_*2126del) c.1675_1710del (p.Val559_Lys570del) c.2257_2292del (p.Val753_Lys764del) c.3361_3396del (p.Val1121_Lys1132del) c.3037_3072del (p.Val1013_Lys1024del) c.1930_1965del (p.Val644_Lys655del) c.1924_1959del (p.Val642_Lys653del) c.1783_1818del (p.Val595_Lys606del) c.1777_1812del (p.Val593_Lys604del) | gnomAD v4 |
19 | g.8580957T>A | CA403747920 | ADAMTS10 | c.3248A>T (p.Lys1083Ile) c.*2125A>T (n.*2125A>T) c.1709A>T (p.Lys570Ile) c.2291A>T (p.Lys764Ile) c.3395A>T (p.Lys1132Ile) c.3071A>T (p.Lys1024Ile) c.1964A>T (p.Lys655Ile) c.1958A>T (p.Lys653Ile) c.1817A>T (p.Lys606Ile) c.1811A>T (p.Lys604Ile) | |
19 | g.8580957T>C | CA403747919 | ADAMTS10 | c.3248A>G (p.Lys1083Arg) c.*2125A>G (n.*2125A>G) c.1709A>G (p.Lys570Arg) c.2291A>G (p.Lys764Arg) c.3395A>G (p.Lys1132Arg) c.3071A>G (p.Lys1024Arg) c.1964A>G (p.Lys655Arg) c.1958A>G (p.Lys653Arg) c.1817A>G (p.Lys606Arg) c.1811A>G (p.Lys604Arg) | |
19 | g.8580957T>G | CA403747918 | ADAMTS10 | c.3248A>C (p.Lys1083Thr) c.*2125A>C (n.*2125A>C) c.1709A>C (p.Lys570Thr) c.2291A>C (p.Lys764Thr) c.3395A>C (p.Lys1132Thr) c.3071A>C (p.Lys1024Thr) c.1964A>C (p.Lys655Thr) c.1958A>C (p.Lys653Thr) c.1817A>C (p.Lys606Thr) c.1811A>C (p.Lys604Thr) | |
19 | g.8580958T>A | CA403747921 | ADAMTS10 | c.3247A>T (p.Lys1083Ter) c.*2124A>T (n.*2124A>T) c.1708A>T (p.Lys570Ter) c.2290A>T (p.Lys764Ter) c.3394A>T (p.Lys1132Ter) c.3070A>T (p.Lys1024Ter) c.1963A>T (p.Lys655Ter) c.1957A>T (p.Lys653Ter) c.1816A>T (p.Lys606Ter) c.1810A>T (p.Lys604Ter) | |
19 | g.8580958T>C | CA403747922 | ADAMTS10 | c.3247A>G (p.Lys1083Glu) c.*2124A>G (n.*2124A>G) c.1708A>G (p.Lys570Glu) c.2290A>G (p.Lys764Glu) c.3394A>G (p.Lys1132Glu) c.3070A>G (p.Lys1024Glu) c.1963A>G (p.Lys655Glu) c.1957A>G (p.Lys653Glu) c.1816A>G (p.Lys606Glu) c.1810A>G (p.Lys604Glu) | |
19 | g.8580958T>G | CA403747923 | ADAMTS10 | c.3247A>C (p.Lys1083Gln) c.*2124A>C (n.*2124A>C) c.1708A>C (p.Lys570Gln) c.2290A>C (p.Lys764Gln) c.3394A>C (p.Lys1132Gln) c.3070A>C (p.Lys1024Gln) c.1963A>C (p.Lys655Gln) c.1957A>C (p.Lys653Gln) c.1816A>C (p.Lys606Gln) c.1810A>C (p.Lys604Gln) | gnomAD v4 |
19 | g.8580959G>A | CA505263187 | ADAMTS10 | c.3246C>T (p.Leu1082=) c.*2123C>T (n.*2123C>T) c.1707C>T (p.Leu569=) c.2289C>T (p.Leu763=) c.3393C>T (p.Leu1131=) c.3069C>T (p.Leu1023=) c.1962C>T (p.Leu654=) c.1956C>T (p.Leu652=) c.1815C>T (p.Leu605=) c.1809C>T (p.Leu603=) | dbSNP |
19 | g.8580959G>C | CA505263196 | ADAMTS10 | c.3246C>G (p.Leu1082=) c.*2123C>G (n.*2123C>G) c.1707C>G (p.Leu569=) c.2289C>G (p.Leu763=) c.3393C>G (p.Leu1131=) c.3069C>G (p.Leu1023=) c.1962C>G (p.Leu654=) c.1956C>G (p.Leu652=) c.1815C>G (p.Leu605=) c.1809C>G (p.Leu603=) | |
19 | g.8580959G= | CA2321494728 | ADAMTS10 | c.3246C= (p.Leu1082=) c.*2123C= (n.*2123C=) c.1707C= (p.Leu569=) c.2289C= (p.Leu763=) c.3393C= (p.Leu1131=) c.3069C= (p.Leu1023=) c.1962C= (p.Leu654=) c.1956C= (p.Leu652=) c.1815C= (p.Leu605=) c.1809C= (p.Leu603=) | |
19 | g.8580959G>T | CA505263199 | ADAMTS10 | c.3246C>A (p.Leu1082=) c.*2123C>A (n.*2123C>A) c.1707C>A (p.Leu569=) c.2289C>A (p.Leu763=) c.3393C>A (p.Leu1131=) c.3069C>A (p.Leu1023=) c.1962C>A (p.Leu654=) c.1956C>A (p.Leu652=) c.1815C>A (p.Leu605=) c.1809C>A (p.Leu603=) | |
19 | g.8580960A= | CA2321494729 | ADAMTS10 | c.3245T= (p.Leu1082=) c.*2122T= (n.*2122T=) c.1706T= (p.Leu569=) c.2288T= (p.Leu763=) c.3392T= (p.Leu1131=) c.3068T= (p.Leu1023=) c.1961T= (p.Leu654=) c.1955T= (p.Leu652=) c.1814T= (p.Leu605=) c.1808T= (p.Leu603=) | |
19 | g.8580960A>C | CA403747924 | ADAMTS10 | c.3245T>G (p.Leu1082Arg) c.*2122T>G (n.*2122T>G) c.1706T>G (p.Leu569Arg) c.2288T>G (p.Leu763Arg) c.3392T>G (p.Leu1131Arg) c.3068T>G (p.Leu1023Arg) c.1961T>G (p.Leu654Arg) c.1955T>G (p.Leu652Arg) c.1814T>G (p.Leu605Arg) c.1808T>G (p.Leu603Arg) | |
19 | g.8580960A>G | CA403747925 | ADAMTS10 | c.3245T>C (p.Leu1082Pro) c.*2122T>C (n.*2122T>C) c.1706T>C (p.Leu569Pro) c.2288T>C (p.Leu763Pro) c.3392T>C (p.Leu1131Pro) c.3068T>C (p.Leu1023Pro) c.1961T>C (p.Leu654Pro) c.1955T>C (p.Leu652Pro) c.1814T>C (p.Leu605Pro) c.1808T>C (p.Leu603Pro) | gnomAD v4 |
19 | g.8580960A>T | CA403747926 | ADAMTS10 | c.3245T>A (p.Leu1082His) c.*2122T>A (n.*2122T>A) c.1706T>A (p.Leu569His) c.2288T>A (p.Leu763His) c.3392T>A (p.Leu1131His) c.3068T>A (p.Leu1023His) c.1961T>A (p.Leu654His) c.1955T>A (p.Leu652His) c.1814T>A (p.Leu605His) c.1808T>A (p.Leu603His) | |
19 | g.8580961G>A | CA403747929 | ADAMTS10 | c.3244C>T (p.Leu1082Phe) c.*2121C>T (n.*2121C>T) c.1705C>T (p.Leu569Phe) c.2287C>T (p.Leu763Phe) c.3391C>T (p.Leu1131Phe) c.3067C>T (p.Leu1023Phe) c.1960C>T (p.Leu654Phe) c.1954C>T (p.Leu652Phe) c.1813C>T (p.Leu605Phe) c.1807C>T (p.Leu603Phe) | gnomAD v4 |
19 | g.8580961G>C | CA403747930 | ADAMTS10 | c.3244C>G (p.Leu1082Val) c.*2121C>G (n.*2121C>G) c.1705C>G (p.Leu569Val) c.2287C>G (p.Leu763Val) c.3391C>G (p.Leu1131Val) c.3067C>G (p.Leu1023Val) c.1960C>G (p.Leu654Val) c.1954C>G (p.Leu652Val) c.1813C>G (p.Leu605Val) c.1807C>G (p.Leu603Val) | ClinVar dbSNP |
19 | g.8580961G= | CA2321494730 | ADAMTS10 | c.3244C= (p.Leu1082=) c.*2121C= (n.*2121C=) c.1705C= (p.Leu569=) c.2287C= (p.Leu763=) c.3391C= (p.Leu1131=) c.3067C= (p.Leu1023=) c.1960C= (p.Leu654=) c.1954C= (p.Leu652=) c.1813C= (p.Leu605=) c.1807C= (p.Leu603=) | |
19 | g.8580961G>T | CA403747928 | ADAMTS10 | c.3244C>A (p.Leu1082Ile) c.*2121C>A (n.*2121C>A) c.1705C>A (p.Leu569Ile) c.2287C>A (p.Leu763Ile) c.3391C>A (p.Leu1131Ile) c.3067C>A (p.Leu1023Ile) c.1960C>A (p.Leu654Ile) c.1954C>A (p.Leu652Ile) c.1813C>A (p.Leu605Ile) c.1807C>A (p.Leu603Ile) | |
19 | g.8580961_8580962dup | CA403747927 | ADAMTS10 | c.3243_3244dup (p.Leu1082ArgfsTer?) c.*2120_*2121dup (n.*2120_*2121dup) c.1704_1705dup (p.Leu569ArgfsTer?) c.2286_2287dup (p.Leu763ArgfsTer?) c.3390_3391dup (p.Leu1131ArgfsTer?) c.3066_3067dup (p.Leu1023ArgfsTer?) c.1959_1960dup (p.Leu654ArgfsTer?) c.1953_1954dup (p.Leu652ArgfsTer?) c.1812_1813dup (p.Leu605ArgfsTer?) c.1806_1807dup (p.Leu603ArgfsTer?) | dbSNP |
19 | g.8580962C>A | CA505263223 | ADAMTS10 | c.3243G>T (p.Val1081=) c.*2120G>T (n.*2120G>T) c.1704G>T (p.Val568=) c.2286G>T (p.Val762=) c.3390G>T (p.Val1130=) c.3066G>T (p.Val1022=) c.1959G>T (p.Val653=) c.1953G>T (p.Val651=) c.1812G>T (p.Val604=) c.1806G>T (p.Val602=) | |
19 | g.8580962C= | CA2321494731 | ADAMTS10 | c.3243G= (p.Val1081=) c.*2120G= (n.*2120G=) c.1704G= (p.Val568=) c.2286G= (p.Val762=) c.3390G= (p.Val1130=) c.3066G= (p.Val1022=) c.1959G= (p.Val653=) c.1953G= (p.Val651=) c.1812G= (p.Val604=) c.1806G= (p.Val602=) | |
19 | g.8580962C>G | CA505263226 | ADAMTS10 | c.3243G>C (p.Val1081=) c.*2120G>C (n.*2120G>C) c.1704G>C (p.Val568=) c.2286G>C (p.Val762=) c.3390G>C (p.Val1130=) c.3066G>C (p.Val1022=) c.1959G>C (p.Val653=) c.1953G>C (p.Val651=) c.1812G>C (p.Val604=) c.1806G>C (p.Val602=) | dbSNP |
19 | g.8580962C>T | CA505263227 | ADAMTS10 | c.3243G>A (p.Val1081=) c.*2120G>A (n.*2120G>A) c.1704G>A (p.Val568=) c.2286G>A (p.Val762=) c.3390G>A (p.Val1130=) c.3066G>A (p.Val1022=) c.1959G>A (p.Val653=) c.1953G>A (p.Val651=) c.1812G>A (p.Val604=) c.1806G>A (p.Val602=) | |
19 | g.8580963A>C | CA403747931 | ADAMTS10 | c.3242T>G (p.Val1081Gly) c.*2119T>G (n.*2119T>G) c.1703T>G (p.Val568Gly) c.2285T>G (p.Val762Gly) c.3389T>G (p.Val1130Gly) c.3065T>G (p.Val1022Gly) c.1958T>G (p.Val653Gly) c.1952T>G (p.Val651Gly) c.1811T>G (p.Val604Gly) c.1805T>G (p.Val602Gly) | |
19 | g.8580963A>G | CA403747932 | ADAMTS10 | c.3242T>C (p.Val1081Ala) c.*2119T>C (n.*2119T>C) c.1703T>C (p.Val568Ala) c.2285T>C (p.Val762Ala) c.3389T>C (p.Val1130Ala) c.3065T>C (p.Val1022Ala) c.1958T>C (p.Val653Ala) c.1952T>C (p.Val651Ala) c.1811T>C (p.Val604Ala) c.1805T>C (p.Val602Ala) | |
19 | g.8580963A>T | CA403747933 | ADAMTS10 | c.3242T>A (p.Val1081Glu) c.*2119T>A (n.*2119T>A) c.1703T>A (p.Val568Glu) c.2285T>A (p.Val762Glu) c.3389T>A (p.Val1130Glu) c.3065T>A (p.Val1022Glu) c.1958T>A (p.Val653Glu) c.1952T>A (p.Val651Glu) c.1811T>A (p.Val604Glu) c.1805T>A (p.Val602Glu) | |
19 | g.8580964C>A | CA403747934 | ADAMTS10 | c.3241G>T (p.Val1081Leu) c.*2118G>T (n.*2118G>T) c.1702G>T (p.Val568Leu) c.2284G>T (p.Val762Leu) c.3388G>T (p.Val1130Leu) c.3064G>T (p.Val1022Leu) c.1957G>T (p.Val653Leu) c.1951G>T (p.Val651Leu) c.1810G>T (p.Val604Leu) c.1804G>T (p.Val602Leu) | |
19 | g.8580964C>G | CA403747935 | ADAMTS10 | c.3241G>C (p.Val1081Leu) c.*2118G>C (n.*2118G>C) c.1702G>C (p.Val568Leu) c.2284G>C (p.Val762Leu) c.3388G>C (p.Val1130Leu) c.3064G>C (p.Val1022Leu) c.1957G>C (p.Val653Leu) c.1951G>C (p.Val651Leu) c.1810G>C (p.Val604Leu) c.1804G>C (p.Val602Leu) | |
19 | g.8580964C>T | CA403747936 | ADAMTS10 | c.3241G>A (p.Val1081Met) c.*2118G>A (n.*2118G>A) c.1702G>A (p.Val568Met) c.2284G>A (p.Val762Met) c.3388G>A (p.Val1130Met) c.3064G>A (p.Val1022Met) c.1957G>A (p.Val653Met) c.1951G>A (p.Val651Met) c.1810G>A (p.Val604Met) c.1804G>A (p.Val602Met) | |
19 | g.8580965C>A | CA505263241 | ADAMTS10 | c.3240G>T (p.Leu1080=) c.*2117G>T (n.*2117G>T) c.1701G>T (p.Leu567=) c.2283G>T (p.Leu761=) c.3387G>T (p.Leu1129=) c.3063G>T (p.Leu1021=) c.1956G>T (p.Leu652=) c.1950G>T (p.Leu650=) c.1809G>T (p.Leu603=) c.1803G>T (p.Leu601=) | |
19 | g.8580965C>G | CA505263246 | ADAMTS10 | c.3240G>C (p.Leu1080=) c.*2117G>C (n.*2117G>C) c.1701G>C (p.Leu567=) c.2283G>C (p.Leu761=) c.3387G>C (p.Leu1129=) c.3063G>C (p.Leu1021=) c.1956G>C (p.Leu652=) c.1950G>C (p.Leu650=) c.1809G>C (p.Leu603=) c.1803G>C (p.Leu601=) | |
19 | g.8580965C>T | CA505263244 | ADAMTS10 | c.3240G>A (p.Leu1080=) c.*2117G>A (n.*2117G>A) c.1701G>A (p.Leu567=) c.2283G>A (p.Leu761=) c.3387G>A (p.Leu1129=) c.3063G>A (p.Leu1021=) c.1956G>A (p.Leu652=) c.1950G>A (p.Leu650=) c.1809G>A (p.Leu603=) c.1803G>A (p.Leu601=) | |
19 | g.8580966A>C | CA403747937 | ADAMTS10 | c.3239T>G (p.Leu1080Arg) c.*2116T>G (n.*2116T>G) c.1700T>G (p.Leu567Arg) c.2282T>G (p.Leu761Arg) c.3386T>G (p.Leu1129Arg) c.3062T>G (p.Leu1021Arg) c.1955T>G (p.Leu652Arg) c.1949T>G (p.Leu650Arg) c.1808T>G (p.Leu603Arg) c.1802T>G (p.Leu601Arg) | gnomAD v4 |
19 | g.8580966A>G | CA403747938 | ADAMTS10 | c.3239T>C (p.Leu1080Pro) c.*2116T>C (n.*2116T>C) c.1700T>C (p.Leu567Pro) c.2282T>C (p.Leu761Pro) c.3386T>C (p.Leu1129Pro) c.3062T>C (p.Leu1021Pro) c.1955T>C (p.Leu652Pro) c.1949T>C (p.Leu650Pro) c.1808T>C (p.Leu603Pro) c.1802T>C (p.Leu601Pro) | |
19 | g.8580966A>T | CA403747939 | ADAMTS10 | c.3239T>A (p.Leu1080Gln) c.*2116T>A (n.*2116T>A) c.1700T>A (p.Leu567Gln) c.2282T>A (p.Leu761Gln) c.3386T>A (p.Leu1129Gln) c.3062T>A (p.Leu1021Gln) c.1955T>A (p.Leu652Gln) c.1949T>A (p.Leu650Gln) c.1808T>A (p.Leu603Gln) c.1802T>A (p.Leu601Gln) | |
19 | g.8580967G>A | CA505263256 | ADAMTS10 | c.3238C>T (p.Leu1080=) c.*2115C>T (n.*2115C>T) c.1699C>T (p.Leu567=) c.2281C>T (p.Leu761=) c.3385C>T (p.Leu1129=) c.3061C>T (p.Leu1021=) c.1954C>T (p.Leu652=) c.1948C>T (p.Leu650=) c.1807C>T (p.Leu603=) c.1801C>T (p.Leu601=) | |
19 | g.8580967G>C | CA403747940 | ADAMTS10 | c.3238C>G (p.Leu1080Val) c.*2115C>G (n.*2115C>G) c.1699C>G (p.Leu567Val) c.2281C>G (p.Leu761Val) c.3385C>G (p.Leu1129Val) c.3061C>G (p.Leu1021Val) c.1954C>G (p.Leu652Val) c.1948C>G (p.Leu650Val) c.1807C>G (p.Leu603Val) c.1801C>G (p.Leu601Val) | |
19 | g.8580967G>T | CA403747941 | ADAMTS10 | c.3238C>A (p.Leu1080Met) c.*2115C>A (n.*2115C>A) c.1699C>A (p.Leu567Met) c.2281C>A (p.Leu761Met) c.3385C>A (p.Leu1129Met) c.3061C>A (p.Leu1021Met) c.1954C>A (p.Leu652Met) c.1948C>A (p.Leu650Met) c.1807C>A (p.Leu603Met) c.1801C>A (p.Leu601Met) | |
19 | g.8580971dup | CA2588116126 | ADAMTS10 | c.3238dup (p.Leu1080ProfsTer?) c.*2115dup (n.*2115dup) c.1699dup (p.Leu567ProfsTer?) c.2281dup (p.Leu761ProfsTer?) c.3385dup (p.Leu1129ProfsTer?) c.3061dup (p.Leu1021ProfsTer?) c.1954dup (p.Leu652ProfsTer?) c.1948dup (p.Leu650ProfsTer?) c.1807dup (p.Leu603ProfsTer?) c.1801dup (p.Leu601ProfsTer?) | gnomAD v4 |
19 | g.8580968G>A | CA505263262 | ADAMTS10 | c.3237C>T (p.Pro1079=) c.*2114C>T (n.*2114C>T) c.1698C>T (p.Pro566=) c.2280C>T (p.Pro760=) c.3384C>T (p.Pro1128=) c.3060C>T (p.Pro1020=) c.1953C>T (p.Pro651=) c.1947C>T (p.Pro649=) c.1806C>T (p.Pro602=) c.1800C>T (p.Pro600=) | |
19 | g.8580968G>C | CA505263264 | ADAMTS10 | c.3237C>G (p.Pro1079=) c.*2114C>G (n.*2114C>G) c.1698C>G (p.Pro566=) c.2280C>G (p.Pro760=) c.3384C>G (p.Pro1128=) c.3060C>G (p.Pro1020=) c.1953C>G (p.Pro651=) c.1947C>G (p.Pro649=) c.1806C>G (p.Pro602=) c.1800C>G (p.Pro600=) | |
19 | g.8580968G= | CA2321494732 | ADAMTS10 | c.3237C= (p.Pro1079=) c.*2114C= (n.*2114C=) c.1698C= (p.Pro566=) c.2280C= (p.Pro760=) c.3384C= (p.Pro1128=) c.3060C= (p.Pro1020=) c.1953C= (p.Pro651=) c.1947C= (p.Pro649=) c.1806C= (p.Pro602=) c.1800C= (p.Pro600=) | |
19 | g.8580968G>T | CA505263267 | ADAMTS10 | c.3237C>A (p.Pro1079=) c.*2114C>A (n.*2114C>A) c.1698C>A (p.Pro566=) c.2280C>A (p.Pro760=) c.3384C>A (p.Pro1128=) c.3060C>A (p.Pro1020=) c.1953C>A (p.Pro651=) c.1947C>A (p.Pro649=) c.1806C>A (p.Pro602=) c.1800C>A (p.Pro600=) | |
19 | g.8580969G>A | CA403747943 | ADAMTS10 | c.3236C>T (p.Pro1079Leu) c.*2113C>T (n.*2113C>T) c.1697C>T (p.Pro566Leu) c.2279C>T (p.Pro760Leu) c.3383C>T (p.Pro1128Leu) c.3059C>T (p.Pro1020Leu) c.1952C>T (p.Pro651Leu) c.1946C>T (p.Pro649Leu) c.1805C>T (p.Pro602Leu) c.1799C>T (p.Pro600Leu) | |
19 | g.8580969G>C | CA403747944 | ADAMTS10 | c.3236C>G (p.Pro1079Arg) c.*2113C>G (n.*2113C>G) c.1697C>G (p.Pro566Arg) c.2279C>G (p.Pro760Arg) c.3383C>G (p.Pro1128Arg) c.3059C>G (p.Pro1020Arg) c.1952C>G (p.Pro651Arg) c.1946C>G (p.Pro649Arg) c.1805C>G (p.Pro602Arg) c.1799C>G (p.Pro600Arg) | |
19 | g.8580969G>T | CA403747942 | ADAMTS10 | c.3236C>A (p.Pro1079His) c.*2113C>A (n.*2113C>A) c.1697C>A (p.Pro566His) c.2279C>A (p.Pro760His) c.3383C>A (p.Pro1128His) c.3059C>A (p.Pro1020His) c.1952C>A (p.Pro651His) c.1946C>A (p.Pro649His) c.1805C>A (p.Pro602His) c.1799C>A (p.Pro600His) | |
19 | g.8580969_8580972dup | CA631705378 | ADAMTS10 | c.3233_3236dup (p.Leu1080ProfsTer?) c.*2110_*2113dup (n.*2110_*2113dup) c.1694_1697dup (p.Leu567ProfsTer?) c.2276_2279dup (p.Leu761ProfsTer?) c.3380_3383dup (p.Leu1129ProfsTer?) c.3056_3059dup (p.Leu1021ProfsTer?) c.1949_1952dup (p.Leu652ProfsTer?) c.1943_1946dup (p.Leu650ProfsTer?) c.1802_1805dup (p.Leu603ProfsTer?) c.1796_1799dup (p.Leu601ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |